Everything the analysis engine concluded from the corpus: new publications, sources that changed, gene–trait links, reported figures, care recommendations and contradicting evidence. Each card shows how many independent sources support it and links to the exact sentence.
A source reports “1 in 14,500” in the context of general: “1 The worldwide prevalence of 17q12DS is unknown although one study reported this condition in 1 in 14,500 people in Iceland.”
17q12 deletion syndrome Description 17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell.
Maturity-onset diabetes of the young Description Maturity-onset diabetes of the young (MODY) is a group of several conditions characterized by abnormally high levels of blood glucose, also called blood sugar.
The purpose of the 17q12 Patient Registry is to bring the chromosome 17q12 deletion and duplication syndrome community together and collect data.
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic...
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and...
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the...
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male...
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel...
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was...
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may further expand precision treatment approaches.”
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear...
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver enzyme elevations, and a complex Müllerian anomaly requiring surgical correction.”
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter...
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription...
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the genetic cause of polycystic kidney disease detected in the proband during the fetal period and...
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located on chromosome 17q12, plays a critical role in the embryonic development of the kidneys, pancreas,...
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.”
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype associations, advancing molecular characterization and NDD genetic diagnoses.”
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from...
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B), although some of the novel validated genes such as COPS8 were also associated with a high number of...
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes...
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of novel treatments targeting insulin resistance.”
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic kidneys due to the 17q12 microdeletion syndrome.”
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic mutation in the Hepatocyte Nuclear Factor-1β ( HNF-1β ) gene on chromosome 17q12.”
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in the absence of overt diabetes.”
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than variants located in the POU h or transactivation domains.”
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with non-diabetic nephropathy [ 3 ].”
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding domain were previously reported [ 15 ].”
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”
A source describes a new or expanded observation: “Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.”
A source describes a new or expanded observation: “Here, we report a patient presenting with MODY5 diabetes who was eventually diagnosed with 17q12 deletion syndrome identified by microarray analysis.”
A source describes a new or expanded observation: “Here, we provide evidence that a hepatocyte nuclear factor 1 binding element (HNF1A element) within the MTTP promoter serves as a novel negative insulin-responsive element.”
A source describes a new or expanded observation: “New-onset diabetes after transplantation associated with a newly described deletion in HNF1B.”
A source describes a new or expanded observation: “We report on a series of three patients with pancreatic agenesis and congenital heart defects.”
A source describes a new or expanded observation: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic tubulointerstitial...
A source describes a new or expanded observation: “We described the first Brazilian case of MODY5 due to a heterozygous whole-gene deletion in HNF1B, who developed rapidly progressive renal failure and death.”
A source describes a new or expanded observation: “Identification of 8 Novel Mutations in Nephrogenesis-Related Genes in Chinese Han Patients with Unilateral Renal Agenesis.”
A source describes a new or expanded observation: “The variety of phenotypes suggests a novel microdeletion syndrome spanning the <italic>HNF1A</italic> gene.”
A source describes a new or expanded observation: “We report the first hepatobiliary phenotype in a patient with an HNF1B overdosage.”
A source describes a new or expanded observation: “Congenital heart defects in a novel recurrent 22q11.2 deletion harboring the genes CRKL and MAPK1.”
A source describes a new or expanded observation: “Here, we report a simple two-step differentiation protocol to generate kidney tubular organoids from hPSCs with direct purification of KSP (kidney specific protein)-positive cells using anti-KSP antibody.”
A source describes a new or expanded observation: “We identified three novel genomic regions significantly associated (FDR-corrected P <0.10) with lung cancer risk (rs336958 on 5q14.3, rs7186207 on 16q22.2, and rs11658063 on 17q12).”
A source describes a new or expanded observation: “Our findings demonstrate novel cross-cancer pleiotropic associations with lung cancer risk in African Americans.”
A source describes a new or expanded observation: “A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta.”
A source describes a new or expanded observation: “Mst1/2 kinases restrain transformation in a novel transgenic model of Ras driven non-small cell lung cancer.”
A source describes a new or expanded observation: “Whole exome sequencing reveals novel candidate gene variants for MODY.”
A source describes a new or expanded observation: “This study revealed the presence of nonsynonymous alterations in novel candidate genes which were implicated in the insulin secretion.”
A source describes a new or expanded observation: “This is the first WES study which reveals novel candidate genes in Turkish MODY patients although functional analyses are required to confirm the pathogenicity of these variants.”
A source describes a new or expanded observation: “In conclusion, we first reported AP in patients with duplication of the 17q12 region, resulting in the phenotype of 17q12 duplication syndrome.”
A source describes a new or expanded observation: “MODY 6 The MODY 6 (NEUROD1) gene mutation was first reported in two families in 1999 6 .”
A source describes a new or expanded observation: “As the definition of classical MODY is not applicable to more than half of MODY 1-6 Japanese patients, novel criteria reflecting the genetic background of specific ethnicities should be defined.”
A source describes a new or expanded observation: “Furthermore, in the future, we hope to identify novel MODY genes, likely low penetrant genes, as a group of constitutively enriched "islet function network" genes 58 , 59 .”
A source describes a new or expanded observation: “In this report, we describe the diagnostic caveats, clinical features and long-term renal-trajectory of people with HNF1B mutations (HNF1B-MODY).”
A source describes a new or expanded observation: “Case presentation We report a 62-year-old male referred to the Undiagnosed Diseases Program (UDP) at the National Institutes of Health (NIH) who presented with persistent hypermagnesiuric hypomagnesemia and was found to have a 17q12 deletion.”
A source describes a new or expanded observation: “HNF1B deficiency is associated with a clinical syndrome (kidney and urogenital malformations, maturity-onset diabetes of the young, exocrine pancreatic insufficiency) and to an underdiagnosed liver involvement.”
A source describes a new or expanded observation: “Case Reports We describe 4 patients from 3 families with HNF1B -MODY, whose initial presentations were diabetes.”
A source describes a new or expanded observation: “On hospitalization, serum Mg 2+ (sMg) was assessed for the first time, and hypomagnesemia was observed.”
A source describes a new or expanded observation: “Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
A source describes a new or expanded observation: “1 , 3 We describe the mutations identified in the Polish population re‐evaluated according to the ACMG criteria, summarize phenotypes of mutation carriers, and compare them to patients with negative results searching for the most discriminative features.”
A source describes a new or expanded observation: “3.2 Clinical presentation of selected cases Phenotypes of patients with novel HNF1B mutations were consistent with HNF1B ‐MODY.”
A source describes a new or expanded observation: “The carrier of the other novel mutation (p.Leu145Argfs, #25) presented with diabetes, cystic kidneys, and additional genital system malformations: bicornuate uterus, hypoplasia of vaginal part of uteri cervix, hypoplasia of vagina, transverse vaginal septum.”
A source describes a new or expanded observation: “The first case was a girl (with whole‐gene deletion of HNF1B, #9) who presented with diabetes at 11 y.o., with glycemia ~300 mg/dL, HbA1c concentration of 8%, and low but detectable concentration of C‐peptide (0.2 nmol/L with N: 0.4‐1.2 nmol/L).”
A source describes a new or expanded observation: “Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and polyuria underwent urine glucose screening at school where glucosuria was detected for the first time.”
A source describes a new or expanded observation: “Discussion This is the first report to identify and validate the function of a transcription enhancer in the kidney that controls dimorphic Klotho expression.”
A source describes a new or expanded observation: “To our knowledge, this is the first report on the functionality of an enhancer of a known renal disease marker.”
A source describes a new or expanded observation: “A Korean Family Presenting with Renal Cysts and Maturity-Onset Diabetes of the Young Caused by a Novel In-Frame Deletion of HNF1B .”
A source describes a new or expanded observation: “Kidney biopsy demonstrated not only tubulointerstitial fibrosis but also abnormal mitochondrial morphology in tubular cells, a novel finding.”
A source describes a new or expanded observation: “We report on the kidney disease of an individual with ADTKD-HNF1B and mainly focus on the histology of the kidney.”
A source describes a new or expanded observation: “In conclusion, this patient presented with both kidney cystic lesions and diabetes and had a family history of kidney cystic lesion and diabetes, which are HNF1B-associated phenotypes, and genetic analysis revealed a novel variant of HNF1B.”
A source describes a new or expanded observation: “We performed a kidney biopsy of his cystic kidney and this is the first report of the kidney biopsy on ADTKD-HNF1B.”
A source describes a new or expanded observation: “We have, for the first time, described the ovarian function and gyneco-obstetric profile of patients with an HNF1 variant.”
A source describes a new or expanded observation: “However, knowledge about genotype-phenotype correlations is increasing, as is the need for more accurate estimation of prognosis in view of novel therapies 49 .”
A source describes a new or expanded observation: “We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
A source reports “70 percent” in the context of diabetes metabolic: “The most common types are HNF1A -MODY (also known as MODY3), accounting for 50 to 70 percent of cases, and GCK -MODY (MODY2), accounting for 30 to 50 percent of cases.”
A source reports “10 percent” in the context of kidney: “Less frequent types include HNF4A -MODY (MODY1) and renal cysts and diabetes (RCAD) syndrome (also known as HNF1B -MODY or MODY5), which each account for 5 to 10 percent of cases.”
A source reports “3 percent” in the context of diabetes metabolic: “Frequency MODY is estimated to account for 1 to 3 percent of all cases of diabetes.”
A source reports no association or a negative finding: “The evidence for insulin or non-insulin therapies in MD and HNF1B-diabetes was not clear and there was almost no evidence for HNF4A-diabetes treatment.”
A source reports no association or a negative finding: “There was no evidence to support dietary recommendations specific to GCK-related hyperglycemia.”
A source reports no association or a negative finding: “In contrast, in the group with HNF1B variants, the number of functional kidneys was not associated with CKD progression (HR: 0.92 [95% CI: 0.43-1.98), P = 0.836, Supplementary Figure S4 b).”
A source reports no association or a negative finding: “In patients with HNF1B -MODY, renal involvement is not associated with diabetic nephropathy but rather with aberrant embryonic development [ 51 ].”
A source reports no association or a negative finding: “We report HNF1B screening in a cohort of 377 unrelated cases with various kidney phenotypes (hyperechogenic kidneys with size not more than +3 SD, multicystic kidney disease, renal agenesis, renal hypoplasia, cystic dysplasia, or hyperuricemic...
A source reports no association or a negative finding: “No association between MODY3 and Dandy-Walker variants (DWV) has been reported. <italic>HNF1A</italic> mutations might be responsible for renal malformations.”
A source reports no association or a negative finding: “However, analyses of fetuses carrying two different HNF1B mutations ( Haumaitre et al., 2006 ) as well as of adult mutant carriers ( Faguer et al., 2012 ) show that the cystic renal phenotype was not associated with decreased expression of the cystic disease...
A source reports no association or a negative finding: “If kidney cysts are not associated with disturbances in glucose metabolism, the term HNF1B -associated kidney disease is used.”
A source reports no association or a negative finding: “Overall, 17q12-related HNF1B whole gene deletions were the predominant type in our HNF1B pathogenic variant spectrum, with no significant difference in the proportion of inherited versus de novo pathogenic variants ( p = 0.198).”
A source reports no association or a negative finding: “Because EA has already been identified in patients with 17q12 duplication or HNF1B point mutation, we screened HNF1B (QMPSF and direct sequencing) in nine additional patients with EA and renal abnormalities but failed to identify any pathogenic variant.”
A source reports no association or a negative finding: “In our case, there was no evidence of hepatic enlargement or fibrosis on fetal imaging, and the family history (maternal renal cyst and paternal diabetes) was more suggestive of an HNF1B -related disorder.”
Institutional Review Board (IRB) An Institutional Review Board, for the purpose of protecting your/the Study Participant's rights, has reviewed this registry.
The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
How To Register – 17q12 Patient Registry
For Researchers 17q12 Patient Registry For Researchers The 17q12 Patient Registry collects disease-specific natural history data about individuals with chromosome 17q12 deletion or duplication syndrome, with the goal of improving the understanding of chromosome 17q12 deletion and duplication syndromes and informing...
A source describes a new or expanded observation: “In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypoplasia, and multiple renal cysts, harboring a novel de novo HNF1B missense variant (p.Met160Thr) located within the POU-specific domain.”
A source describes a new or expanded observation: “We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
A source describes a new or expanded observation: “Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”
A source describes a new or expanded observation: “In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and deletion of Mst1/2 kinases.”
A source describes a new or expanded observation: “Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique histopathological features characterised by neoplastic syncytial giant cells, which was observed only in one additional case of paediatric cholestatic...
A source describes a new or expanded observation: “The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted protective effects against pancreatic beta cell dysfunction. [ 11 , 12 ] 2 Case report A 17-year-old woman with a 3-month history of thirst, polydipsia, and...
A source describes a new or expanded observation: “Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based on the analysis of our own results and published data, we delineated for the first time the smallest MOR, including only the BDH1 gene, and compared the...
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
A source describes a new or expanded observation: “Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal structure analysis Abstract Background To determine the pathogenicity of a novel splicing variant in the SMARCC2 gene identified from a pair of adult male...
A source describes a new or expanded observation: “Discussion Herein, we described a 24-year-old proband with moderate DD/ID, language delay, cryptorchidism, hypotonia, behavioral abnormalities, sexual dysfunction, dense hair, craniofacial anomalies, allergic purpura and eczema, and drug allergies caused by a novel...
A source describes a new or expanded observation: “This is the first report on an inherited copy number variation in these self-limiting fever-sensitive epilepsy syndromes, potentially revealing a novel pathomechanism involved in familial FS and GEFS+.”
A source describes a new or expanded observation: “However, there were many highly significant genes showing novel isoforms in our data that were not previously associated with cancer.”
A source describes a new or expanded observation: “Kidney anomaly (KA) cases were most enriched for exonic CNVs, encompassing GD-CNVs and novel deletions; obstructive uropathy (OU) had a lower CNV burden and an intermediate prevalence of GD-CNVs; and vesicoureteral reflux (VUR) had the fewest GD-CNVs but was...
A source describes a new or expanded observation: “Of note, for the first time, we describe the occurrence of medullary sponge kidney (MSK) in a family harboring the HNF1B whole-gene deletion at chromosome 17q12.”
A source describes a new or expanded observation: “For the first time we report about a patient with a 17q12 microdeletion who is affected by MRKH in combination with a vascular and soft tissue disorder.”
A source describes a new or expanded observation: “We report a novel case of diabetes mellitus type MODY5 as a feature of 17q12 deletion syndrome caused by a new 17q12 deletion mutation, which will further broaden the genetic mutation spectrum of this condition.”
A source describes a new or expanded observation: “Glucokinase (GCK)-MODY remains managed without pharmacological treatment outside pregnancy, but dorzagliatin, a novel agent acting as a glucokinase activator, may further expand precision treatment approaches.”
A source describes a new or expanded observation: “A Case of Amyotrophic Lateral Sclerosis With Coexisting Maturity-onset Diabetes of the Young Type 5 Abstract We report the case of a 60-year-old Japanese woman with genetically confirmed maturity-onset diabetes of the young type 5 [MODY5; HNF1B (hepatocyte nuclear...
A source describes a new or expanded observation: “Case Report: We report the case of a 28-year-old woman evaluated for chronic kidney disease of unknown aetiology who presented with atypical radiological findings.”
A source describes a new or expanded observation: “Case presentation: We describe two patients with HNF1B-related MODY confirmed by heterozygous 17q12 microdeletions.”
A source describes a new or expanded observation: “The first case, a 29-year-old woman, presented with diabetes, hypertension, bilateral renal cysts, mild chronic kidney disease (CKD), hypomagnesemia, mild liver enzyme elevations, and a complex Müllerian anomaly requiring surgical correction.”
A source describes a new or expanded observation: “A familial case report of 17q12 recurrent deletion syndrome: clinical and molecular characterization This article presents the first reported familial case of 17q12 recurrent deletion syndrome in Russia, involving a female patient with diabetes and her daughter...
A source describes a new or expanded observation: “Molecular impact of a novel HNF1B missense variant in childhood-onset MODY5: a case report and functional study Maturity-onset diabetes of the young type 5 (MODY5) is a rare autosomal-dominant monogenic diabetes caused by functional loss of the transcription...
A source describes a new or expanded observation: “A novel inversion at 17q12 disrupting HNF1B gene in a patient with renal cysts and diabetes syndrome BACKGROUND AND OBJECTIVE: This study aims to elucidate the genetic cause of polycystic kidney disease detected in the proband during the fetal period and...
A source describes a new or expanded observation: “A Case of a Novel HNF1B Gene Mutation (c.316C>T) and the Renal and Extra-Renal Manifestations of HNF1B Nephropathy Hepatocyte nuclear factor 1-beta (HNF1B), located on chromosome 17q12, plays a critical role in the embryonic development of the kidneys, pancreas,...
A source describes a new or expanded observation: “Here, we describe the case of a female infant with bilateral renal enlargement and multiple cysts detected on prenatal ultrasonography.”
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene conferring exercise-induced symptomatic hyperglycaemia responsive to sulfonylurea.”
A source describes a new or expanded observation: “A novel genetic mutation in a Portuguese family with GCK-MODY.”
A source describes a new or expanded observation: “Clinical follow-up of two Brazilian subjects with glucokinase-MODY (MODY2) with description of a novel mutation.”
A source describes a new or expanded observation: “A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2.”
A source describes a new or expanded observation: “A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2.”
A source describes a new or expanded observation: “A novel nonsense mutation of the HNF1α in maturity-onset diabetes of the young type 3 in Asian population.”
A source describes a new or expanded observation: “A novel HNF1B mutation p.R177Q in autosomal dominant tubulointerstitial kidney disease and maturity-onset diabetes of the young type 5: A pedigree-based case report.”
A source describes a new or expanded observation: “Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.”
A source describes a new or expanded observation: “One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
A source describes a new or expanded observation: “6q24 transient neonatal diabetes mellitus: the first case report from China.”
A source describes a new or expanded observation: “Long-term follow-up of transient neonatal diabetes mellitus due to a novel homozygous c.7734C>T (p.R228C) mutation in ZFP57gene: relapse at prepubertal age.”
A source describes a new or expanded observation: “Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
A source describes a new or expanded observation: “TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
A source describes a new or expanded observation: “First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.”
A source describes a new or expanded observation: “A novel homozygous SLC19A2 mutation in a Portuguese patient with diabetes mellitus and thiamine-responsive megaloblastic anaemia.”
A source describes a new or expanded observation: “A novel mutation in the SLC19A2 gene in a Tunisian family with thiamine-responsive megaloblastic anaemia, diabetes and deafness syndrome.”
A source describes a new or expanded observation: “We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation of 22 novel risk genes and new gene-phenotype associations, advancing molecular characterization and NDD genetic diagnoses.”
A source describes a new or expanded observation: “This overlap implies a statistically significant overrepresentation of ASD-risk SFARI genes among HI genes in both novel ( p = 2.74 × 10 −4 ) and all NDD-risk regions ( p = 4.6 × 10 −5 ) identified in this study.”
A source describes a new or expanded observation: “22 and Trost et al., 23 and also detected an enrichment of ASD-risk genes in the list of qDSGs ( p = 1.72 × 10 −4 ) and also in the subset of those genes that are in novel CNV regions reported in this study ( p = 3.68 × 10 −3 ).”
A source describes a new or expanded observation: “Figure 2 Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from...
A source describes a new or expanded observation: “Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Human Phenotype Ontology (HPO) database, 89.61% (1,578) of them are novel.”
A source describes a new or expanded observation: “We also found that most of the genes with the highest number of significant gene-phenotype associations were candidate or high-confidence genes ( Figure 6 B), although some of the novel validated genes such as COPS8 were also associated with a high number of...
A source describes a new or expanded observation: “Validation of NDD-risk for 162 qDSGs, 22 of them novel genes never associated before with risk for NDD Validation of qDSG in NDD-risk regions found associated to autism in affected individuals from iHART and Decipher compared with control individuals from 1000 Genomes.”
A source describes a new or expanded observation: “Through our results, we confirmed previous evidence that indicates that dosage variation is a key mechanism leading to this type of disorder, since NDD-risk regions, both novel and previously reported, were significantly enriched for dosage-sensitive genes...
A source describes a new or expanded observation: “Deletions in the 2q37.3 region have been previously reported in affected individuals with autism 43 and other NDDs 44 , 45 but COPS8 had never been associated as a critical gene for this region.”
A source describes a new or expanded observation: “1 With continued advancements in understanding these unique forms of diabetes, new pathways emerge for both the prevention of β-cell dysfunction and the discovery of novel treatments targeting insulin resistance.”
A source describes a new or expanded observation: “In this case report, we describe the clinical manifestations and therapeutic approach for a patient with MODY5 diabetes exhibiting liver impairment and polycystic kidneys due to the 17q12 microdeletion syndrome.”
A source describes a new or expanded observation: “A novel hepatocyte nuclear factor-1beta (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes.”
A source describes a new or expanded observation: “We report a 5 year old, end stage kidney disease patient with renal cysts and hypertriglyceridemia (in the absence of overt diabetes) with a known pathogenic mutation in the Hepatocyte Nuclear Factor-1β ( HNF-1β ) gene on chromosome 17q12.”
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in the absence of overt diabetes.”
A source describes a new or expanded observation: “Moreover, this study identified for the first time that variants located in the POU s DNA binding domain of HNF1B had a significantly worse kidney survival than variants located in the POU h or transactivation domains.”
A source describes a new or expanded observation: “(C) According to the results of enrichment analysis of Gene Ontology, we found, for the first time, that LHX1 gene affects the urinary system and GGNBP2 and LHX1 genes affect the development of the female reproductive system.”
A source describes a new or expanded observation: “We speculate for the first time that the GGNBP2 gene may affect the development of the female reproductive system.”
A source describes a new or expanded observation: “In addition, cardiac abnormalities were the first reported prenatal phenotype in 17q12 duplication fetuses.”
A source describes a new or expanded observation: “Zhou et al. [ 28 ] first reported two fetuses with combined cardiac structural abnormalities (tetralogy of Fallot, tricuspid regurgitation) in 2021.”
A source describes a new or expanded observation: “Mutations in the hepatocyte nuclear factor-1B ( HNF1B ) gene were first reported by Horikawa et al. in 1997 as a rare genetic cause of MODY associated with non-diabetic nephropathy [ 3 ].”
A source describes a new or expanded observation: “However, the prenatal and postnatal phenotypes of seven individuals with renal cysts caused by a novel in-frame deletion, p.(Gly239del), within the HNF1B DNA-binding domain were previously reported [ 15 ].”
A source describes a new or expanded observation: “Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease.”
A source describes a new or expanded observation: “Identification of novel HNF1B mRNA splicing variants and their qualitative and semi-quantitative profile in selected healthy and tumour tissues.”
A source describes a new or expanded observation: “A Novel p.L145Q Mutation in the HNF1B Gene in a Case of Maturity-onset Diabetes of the Young Type 5 (MODY5) Intern.”
A source describes a new or expanded observation: “Transcription Factor Glis3, a Novel Critical Player in the Regulation of Pancreatic β-Cell Development and Insulin Gene Expression.”