A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy. Issue 7 (17th May 2013)

• Record Type: Journal Article
• Authors: Durrington, Hannah J.; Firth, Helen V.; Patient, Charlotte; Belham, Mark; Jayne, David; Burrows, Nigel; Morrell, Nicholas W.; Chilvers, Edwin R.
• Is Part Of: American journal of medical genetics. Volume 161:Issue 7(2013:Jul.)
• Page Start: 1690
• Page End: 1694
• Publication Date: 2013-05-17
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.35935
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>ABSTRACT</title> <sec id="ajmga35935-sec-0001" sec-type="section"> <p>Capillary malformation–arteriovenous malformation (CM–AVM) is a newly recognized clinical entity caused by mutation of the <italic>RASA1</italic> gene, which encodes p120‐RasGAP. Here we describe, for the first time, a patient with CM–AVM presenting during the late stages of pregnancy with pulmonary "capillary level" microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a novel mutation of the <italic>RASA1</italic> gene involving a frameshift mutation in the RASGAP domain of <italic>RASA1</italic>. This report extends our current genetic and clinical understanding of CM–AVM. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>