A case of 14q11.2 microdeletion with autistic features, severe obesity and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome.

[wolf-hirschhorn syndrome]

We report on a 21 -year old woman with intellectual disability , autistic features , severe obesity , and facial dysmorphisms suggestive of Wolf-Hirschhorn syndrome (WHS ). Array-CGH analysis showed a 2 .89 Mb deletion on chromosome 14 q 11 .2 containing 47 known genes . The most interesting genes included in this deletion are CHD 8 , a chromodomain helicase DNA binding protein that is associated with autism spectrum disorders , and MMP 14 , a matrix metalloproteinase that has been linked to obesity and type 2 diabetes . This report shows that 14 q 11 .2 microdeletions can mimic WHS and suggests that gene (s ) in the deleted interval that may be responsible for a phenocopy of WHS .

Diseases
Validation

Diseases presenting "intellectual disability" symptom

22q11.2 deletion syndrome

alexander disease

alpha-thalassemia

aniridia

child syndrome

cohen syndrome

cowden syndrome

hirschsprung disease

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

monosomy 21

oculocutaneous albinism

oligodontia

phenylketonuria

proteus syndrome

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated