Conflict of interest: none.
A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy
Article first published online: 17 MAY 2013
Copyright © 2013 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 161, Issue 7, pages 1690–1694, July 2013
How to Cite
2013. A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy. Am J Med Genet Part A 161A:1690–1694., , , , , , , .
- Issue published online: 19 JUN 2013
- Article first published online: 17 MAY 2013
- Manuscript Accepted: 9 FEB 2013
- Manuscript Received: 14 MAY 2012
- NIHR Cambridge Biomedical Research Centre
- capillary malformation–arteriovenous malformation;
- RASA1 frameshift mutation
Capillary malformation–arteriovenous malformation (CM–AVM) is a newly recognized clinical entity caused by mutation of the RASA1 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 RASA1 gene involving a frameshift mutation in the RASGAP domain of RASA1. This report extends our current genetic and clinical understanding of CM–AVM. © 2013 Wiley Periodicals, Inc.