Living with it
Most people with 17q12 deletion go to school, have friends, work and live their own lives. Some need more help than others, and that is allowed.
Here is the honest summary: many people with 17q12 deletion live completely ordinary, full lives. Some need help with school. Some need a lot of help every day. Some need kidney treatment. Some need almost none.
What you can count on:
- you are not alone - there are lots of families with this, and clubs and websites where they talk
- needing help is normal and not embarrassing
- you are still you. A missing page is one fact about your body, not the whole story of you
If you are a kid reading this and you have big questions or big feelings, that is completely normal. Tell a grown-up you trust.
The newest thing we found: 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.”
What "outlook" really means
Doctors use the word prognosis, which is a guess about how things will go. For 17q12 deletion, honest doctors will tell you the guess is fuzzy, because the same deletion does such different things in different people. Life expectancy is not the headline here - most people with this deletion live into adulthood and beyond.
What matters most day to day is getting the right help: kidneys watched, sugar watched, school support, therapy where it helps.
What the newest stories say
Someone reported something new: 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.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: 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.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we report a novel in-frame deletion of HNF1B in a family with renal cysts and MODY, furthering our under…
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.”
“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.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: In conclusion, here we report a novel model of non-small cell lung cancer driven by a mutation in Kras and del…
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.”
“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.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we report a novel case of a syndromic HNF1B -deficient paediatric patient that developed HCC with unique…
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 liver disease of unknown origin.”
“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…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: The current study describes the first case of MODY 5 treated with the GLP-1RA, liraglutide, which exerted prot…
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 polyuria underwent urine glucose scre”
“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,…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: Here, we described five new patients in four families with dup3q29 ranging from 232 to 486 kb in size; based o…
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 phenotypes of carriers of reciprocal m”
“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…”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
Someone reported something new: We reported for the first time three patients with cardiac and great artery malformations…
A source describes a new or expanded observation: “We reported for the first time three patients with cardiac and great artery malformations.”
“We reported for the first time three patients with cardiac and great artery malformations.”found in 1 stories · we are 97% sure · updated 2026-11-14 · read it
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 72% · last updated 2026-11-14 16:44