A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM): the first genetic clinical report in East Asia

Blog Article

Abstract Capillary malformation-arteriovenous malformation (CM-AVM) is a clinical entity newly identified in 2003 that is caused by mutation of the RASA-1 gene, which encodes the protein p120-RasGAP.To date, most of the clinical reports on CM-AVM in the literature involve samples entirely consisting of Caucasians of European and North American descent, while reports from China or East 5-HTP 100MG Asia are few.Here, we describe a genetic clinical report of CM-AVM.Sequencing revealed a novel stop mutation in Body Creams the RASA-1 gene causing loss of function (LOF) of the RasGAP domain.

To our knowledge, this is the first genetic clinical report of a CM-AVM patient in East Asia.This report may extend our understanding and support further studies of CM-AVM in East Asia.