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GENATLAS PHENOTYPE

last update : 08-06-2011

Symbol	AOS
Location	3q13.33
Name	Adams-Oliver syndrome
Corresponding gene	ARHGAP31
Main clinical features	characterized by the combination of aplasia cutis congenita (ACC) and terminal transverse limb defects (TTLD)
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	osteo-articular
Type	malformation

Gene product

Name	encodes a Cdc42/Rac1 regulatory protein.

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
deletion		abnormal protein/gain of function	premature truncating mutations in the terminal exon of ARHGAP31

Remark(s)