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

Hereditas. 2018 Jul 16:155:24. doi: 10.1186/s41065-018-0062-8. eCollection 2018.

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 Asia are few. Here, we describe a genetic clinical report of CM-AVM. Sequencing revealed a novel stop mutation in 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.

Keywords: Capillary malformation-arteriovenous malformation; China; East Asia; RASA-1 mutation; RasGAP.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Malformations / genetics*
  • Asian People
  • Capillaries / abnormalities*
  • Child, Preschool
  • DNA Mutational Analysis
  • Germ-Line Mutation*
  • Humans
  • Male
  • Port-Wine Stain / genetics*
  • p120 GTPase Activating Protein / genetics*

Substances

  • RASA1 protein, human
  • p120 GTPase Activating Protein

Supplementary concepts

  • Capillary Malformation-Arteriovenous Malformation