17q12, explained for kidsdeletion syndrome · static snapshot
Adults Scientists Kids EN NL
Everything here was found on the internet and put together with help from a computer program that reads and writes (AI). It is here so you can learn — it is not the final word. Always check the real source. Read the whole notice
What scientists are working on written for humans

What scientists are working on

Researchers are trying to work out which genes on the missing page do what, and why the same deletion looks so different in different people.

More in What scientists are working on

Science is not finished with this. Right now scientists are:

  • following big groups of people with 17q12 deletion over many years, to learn what actually happens
  • studying stem cells - tiny cells grown in a lab that can become kidney cells - to watch the

problem happen up close

  • comparing people with the same deletion to find out why one person is affected a lot and another

hardly at all

  • looking at each of the 15 genes one by one to learn what it really does

That last one matters, because a few of those genes are still a mystery.

The newest thing we found: 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”

Why it is hard to study

Only about 15 genes are involved, but the deletion is rare enough that no single hospital sees many cases. So scientists have to team up across countries and share their data. That is one reason this site exists: it collects what is published and keeps reading it, so nothing gets lost.

The open questions

  • Which gene is responsible for the learning differences?
  • Why does the same deletion cause so much trouble in one person and nothing in another?
  • Can we predict who will get diabetes, and when?

What the stories say, in numbers

  • What scientists are working on - 170 stories talk about this (2355 times in all).

What the newest stories say

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: Keywords: Syndromic neurodevelopmental disorder, SMARCC2 , Novel splicing variant, cDNA sequencing, Crystal st…
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 monozygotic twins with neurodevelopme”

“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…”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e…
A source describes a new or expanded observation: “Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery efforts (see Tip #9).”

“Novel disease/gene discovery If testing is negative, but the probability of a genetic etiology remains high (e.g. consanguinity, a striking syndromic phenotype, and multiple affected relatives), then consider referral pathways that support gene discovery…”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G…
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.”

“One mutation, three phenotypes: novel metabolic insights on MELAS, MIDD and myopathy caused by the m.3243A > G mutation.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in t…
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.”

“Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: …
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.”

“TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: We provide evidence for the contribution of dosage-sensitive genes within these loci, including the validation…
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.”

“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.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

Someone reported something new: Interestingly, while 10.39% (183) of these gene-phenotype relationships can also be found reported in the Huma…
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.”

“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.”
found in 1 stories · we are 97% sure · updated 2026-11-14 · read it

This entry is version 11. The analytical engine only appends the clearly-labelled “Latest evidence” section; the text above is curated and is not rewritten by the machine. Confidence 70% · last updated 2026-11-14 16:44