Ehlers-Danlos syndrome cardiac valvular type (EDSCV) is a rare autosomal recessive form of EDS. In addition to the usual skin and joint involvement, patients appear to be at increased risk for cardiac valvular dysfunction. Mutations in the COL1A2 gene that encodes type I collagen can give rise to EDSCV.
Schwarze U, Hata R, McKusick VA, Shinkai H, Hoyme HE, Pyeritz RE, Byers PH
タイトル
Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway.
