A boy with mental retardation, obesity and hypertrichosis caused by a microdeletion of 19p13.12.
We present a moderately mentally retarded boy with obesity, short stature, hypertrichosis and facial dysmorphism due to a deletion of 1.2 Mb on chromosome 19p13.2. The deletion was de novo and familial history was negative for the disorder. Genes in the deleted region possibly related to the clinical symptoms of our patient include NOTCH3 (MIM600276), causative of the vascular neurodegenerative disorder CADASIL and CASP14 (MIM605848), playing a central role in apoptosis in the inner root sheeth of the hair follicle.
Van der Aa
Nathalie
N
Department of Medical Genetics, University of Antwerp, University Hospital Antwerp, Antwerp, Belgium. nathalie.van.der.aa@uza.be
Vandeweyer
Geert
G
Kooy
R Frank
RF
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D046589:CADASIL / Q000235:genetics; D020169:Caspases / Q000235:genetics; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics*; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D019636:Neurodegenerative Diseases; D009765:Obesity / Q000235:genetics*; D000071656:Receptor, Notch3; D051880:Receptors, Notch / Q000235:genetics
C499374:NOTCH3 protein, human; D000071656:Receptor, Notch3; D051880:Receptors, Notch; C506446:CASP14 protein, human; D020169:Caspases