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 "obesity" symptom

acute rheumatic fever

adrenal incidentaloma

aniridia

aromatase deficiency

carcinoma of the gallbladder

cohen syndrome

congenital adrenal hyperplasia

cushing syndrome

cystinuria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

familial hypocalciuric hypercalcemia

familial mediterranean fever

heparin-induced thrombocytopenia

kabuki syndrome

monosomy 21

phenylketonuria

primary hyperoxaluria type 1

sneddon syndrome

werner syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

This symptom has already been validated