What genes are related to Ehlers-Danlos syndrome, Vascular Type?

“The diagnosis of EDS type IV is based on clinical findings and confirmed by identification of a causative mutation in COL3A1, the only gene in which mutations are known to cause EDS type IV. Sequence analysis detects 98% of mutations, while rare exonic deletions are detected by COL3A1 deletion/duplication analysis or collagen screening and cDNA amplification. Analysis of collagens produced by cultured fibroblasts ("biochemical studies") from affected individuals can demonstrate abnormalities of type III procollagen production, intracellular retention, reduced secretion, and/or altered mobility in cells from some individuals in which no mutation was detected by genomic sequencing.”

Resource[Melanie G Pepin, MS, CGC and Peter H Byers, MD. Ehlers-Danlos Syndrome Type IV. GeneReviews http://www.ncbi.nlm.nih.gov/books/NBK1494/.]

Creating Knowledge
Building Community
Promoting Change