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A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy
Author(s) -
Durrington Hannah J.,
Firth Helen V.,
Patient Charlotte,
Belham Mark,
Jayne David,
Burrows Nigel,
Morrell Nicholas W.,
Chilvers Edwin R.
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35935
Subject(s) - frameshift mutation , pregnancy , shunt (medical) , mutation , medicine , arteriovenous malformation , gene , radiology , biology , genetics
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.