17q12 deletion syndrome: the short version
A rare, variable genetic condition caused when a small piece of one copy of chromosome 17 is missing. It commonly affects the kidneys and can cause diabetes and learning or speech differences - but the range of what people experience is wide.
Imagine each of your cells holds a library: 46 books (the chromosomes), each with thousands of recipes (genes). In 17q12 deletion syndrome, a small page is missing from one copy of book 17 - the "17q12" page. Because that page holds a handful of important recipes, some - not all - people with the deletion have kidney differences, diabetes, or learning and speech differences.
The single most important thing to know is variability. Two people with exactly the same missing piece can lead very different lives. One may need dialysis in their teens; another may never know they carry it and only be found when their child is tested. Even inside one family, the same deletion can look completely different in a parent and a child.
In one sentence: a common recurrent "microdeletion" (about 1.4 million DNA letters) that removes around 15 genes, most importantly HNF1B, and can affect kidneys, pancreas, development and behaviour - in a very unpredictable way.
How common? Estimates range from about 1 in 4,000 to 1 in 50,000 people depending on how they were measured; a large population sample that was not selected for illness put it at about 1 in 6,000. That makes it one of the more frequent recurrent microdeletion syndromes, and it is thought to be under-recognised because mild cases are never tested.
Freshest finding: 17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
What is deleted
The 17q12 recurrent deletion is a segment of about 1.4 Mb (1.4 million base pairs) on the long arm (q) of chromosome 17 at band 12. It is flanked by large blocks of near-identical DNA (segmental duplications), which is why the same piece keeps going missing in the same place through a mechanism called non-allelic homologous recombination (NAHR). That is also why the deletion is "recurrent": different unrelated people usually lose the very same interval.
The deleted interval contains about 15 genes: AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, MRM1, MYO19, PIGW, SYNRG, TADA2A, ZNHIT3.
Two of them carry most of the clinical weight:
- HNF1B - a transcription factor essential for the development of the kidney, urinary tract,
pancreas, liver and genital tract. Losing one copy explains the renal and diabetes features (the picture previously called RCAD - Renal Cysts And diabetes - or MODY5).
- LHX1 - a developmental transcription factor; animal and human data point at a role in kidney and
Müllerian (female reproductive tract) development, and it interacts with HNF1B pathways.
The remaining genes are less well characterised; some (e.g. DDX52, GGNBP2, ACACA) are candidates for the neurodevelopmental features, but the evidence is not settled.
Naming: three different conditions share a name
Be careful when reading the literature - "17q12 deletion" is used for at least three distinct entities:
| Name | Interval | Typical picture |
|---|---|---|
| 17q12 recurrent deletion syndrome (this page) | ~1.4 Mb, BP2-BP4, includes HNF1B & LHX1 | Kidney + diabetes + neurodevelopmental variability |
| 17q12 proximal deletion syndrome | smaller, more proximal, does not include HNF1B | Primarily developmental/behavioural |
| 17q12 distal deletion syndrome | distal to the recurrent region | Different, rarer phenotype |
The crawler in this project keeps all of them, and the analysis flags which entity a document is about by the genes it names.
Prevalence
Reported figures depend heavily on how people were found. GeneReviews summarises the range as roughly 1:4,000 (small population-based pregnancy cohort) to 1:50,000, with a large, disease-unselected population sample reporting about 1:6,250 (Vaez et al., 2024). The deletion is also a recurrent finding in autism and developmental-cohort sequencing studies. Because mild cases are never tested, diagnosed prevalence understates true prevalence.
Latest evidence in the collected corpus
17q12 microdeletion syndrome - Rare Awareness Rare Education Portal
17q12 microdeletion syndrome is a chromosomal condition in which a small part of chromosome 17 is missing (deleted). 1 This small deletion, also known as a microdeletion, occurs at a location on chromosome 17 called 17q12.
“In rare cases, the deletion was inherited from a parent in an autosomal dominant manner (there is a 50% chance that an affected parent will pass it to each of their children).”corroboration 1 · confidence 97% · updated 2026-11-13 · source
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy
P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as an outpatient.
“P786: Chromosome 17q12 deletion including HNF1B presenting with recurrent severe cholestasis and profound hypomagnesemia during pregnancy The patient had ongoing magnesium infusions during hospital admissions and as an outpatient.”corroboration 1 · confidence 97% · updated 2026-11-13 · source
How To Register – 17q12 Patient Registry
How To Register – 17q12 Patient Registry
“17q12 Patient Registry Thank you for your interest in the 17q12 Patient Registry .”corroboration 1 · confidence 80% · updated 2026-11-13 · source
17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
“Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.”corroboration 1 · confidence 80% · updated 2026-11-13 · source
17q12 Patient Registry
Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.
“Chromosome 17q12 Deletion and Duplication Syndromes Patient Registry (17q12 Patient Registry) The 17q12 Patient Registry serves the chromosome 17q12 deletion and duplication syndromes community.”corroboration 1 · confidence 80% · updated 2026-11-13 · source
chromosome 17q12 deletion syndrome - National Organization for Rare Disorders
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition.
“Disease Overview 17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and…”corroboration 1 · confidence 80% · updated 2026-11-13 · source
New observation reported: In this report, we describe a 12-year-old Japanese female with early-onset diabetes mellitus, pancreatic hypop…
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.”
“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.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
New observation reported: We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understandi…
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.”
“We report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our understanding of HNF1B -related phenotypes.”corroboration 1 · confidence 97% · updated 2026-11-14 · source
This entry is version 15. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 85% · last updated 2026-11-14 16:44