Connexion

GENATLAS PHENOTYPE

last update : 30-11-2011

Symbol	DEL10Q11
Location	10q11.21q11.23
Name	chromosome 10q11.2 microdeletion/microduplication
Corresponding gene	CHAT , SLC18A3
Other symbol(s)	DUP10Q11
Main clinical features	variable phenotypic expressivity and incomplete penetrance developmental delay (DD) and/or intellectual disability (ID) as the only features common to a majority of individuals. other features present in more than one patient with deletion, include hypotonia, sleep apnea, chronic constipation, gastroesophageal and vesicoureteral refluxes, epilepsy, ataxia, dysphagia, nystagmus, and ptosis PMID: 21948486
Genetic determination	chromosomal
	genomic disorder
Prevalence	at least 24 unrelated deletions/17 duplications
Function/system disorder
Type	MCA/MR

Gene product

Name

the CHAT gene encodes choline acetyltransferase, and the SLC18A3 gene, mapping in the first intron of CHAT encodes vesicular acetylcholine transporter

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments

	deletion		from 0.3 to 12 Mb, presence of a small, unique sequence overlap of approximately 1.5 Mb (between 49.2 and 50.6 Mb, LCR 10q11.2 from C to D), encompassing 11 RefSeq genes
	duplication		reciprocal

Remark(s)

not including PTEN gene

Genotype/Phenotype correlations

in most cases the deletion is transmitted by apparently normal carrier parents