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GENATLAS PHENOTYPE

last update : 30-09-2015

Symbol	EDS7A2
Location	7q21.3
Name	Ehlers-Danlos syndrome, type VIIA2
Other name(s)	Ehlers-Danlos syndrome, arthrochalasia type
Corresponding gene	COL1A2
Other symbol(s)	EDS7B
Main clinical features	characterized by severe generalized joint hypermobility, with recurrent subluxations, congenital bilateral hip dislocations severe generalized joint hypermobility with multiple dislocations including congenital bilateral dislocation of the hips, muscular hypotonia and distinct dysmorphic features arthrochalasis multiplex congenita, including short stature, small mandible, considerable hyperextensibility, and increased skin bruising
Genetic determination	autosomal dominant
Function/system disorder	connective tissue
Type	disease

Gene product

Name	collagen type I, alpha 2

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
unknown			an AG->AC mutation in acceptor splice site of intron 5 resulting in exon 6 skipping

Remark(s)