235 Genotype-phenotype correlation in vascular Ehlers-Danlos syndrome: Novel duplication mutation of COL3A1 gene in a large pedigree

Vascular Ehlers-Danlos syndrome (vEDS, OMIM 130050) is a rare autosomal dominantly inherited connective tissue disorder characterized by generalized connective tissue fragility. Affected individuals are at risk of arterial rupture, aneurysm, or dissection; gastrointestinal perforation or rupture; and uterine rupture during pregnancy. The disease is caused by structural defects in the pro α1(III) chain of collagen type III encoded by the COL3A1 gene. Here we present a vEDS patient with complex severe clinical symptoms, and data of full-gene Sanger sequencing of COL3A1 revealing a previously unreported heterozygous variant, c.3124_3141dup (p.Ala1042_Gly1047dup).
Source: Journal of Investigative Dermatology - Category: Dermatology Authors: Tags: Genetics and Cell Based Therapy Source Type: research