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GENATLAS PHENOTYPE

last update : 22-02-2012

Symbol	MADYS2
Location	1p34.2
Name	mandibuloacral dysplasia 2
Corresponding gene	ZMPSTE24
Main clinical features	mandibular and clavicular hypoplasia, acro-osteolysis, joint contractures, skin atrophy, mottled pigmentation, early onset (2 years), generalized lipodystrophy several skeletal anomalies, including delayed closure of the fontanels and multiple wormian bones, hypoplastic clavicles, short terminal phalanges with acroosteolysis
Genetic determination	autosomal recessive
Function/system disorder	congenital malformation
	dermatology
	osteo-articular
Type	disease

Gene product

Name	zinc metalloproteinase (STE24 homolog, yeast)

Remark(s)

. Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia (PMID: 21267004))