title: A novel RASA1 mutation causing capillary malformation-arteriovenous malformation (CM-AVM) presenting during pregnancy.
abstract: 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.
authors.affiliation: Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK.
authors.forename: Hannah J
authors.initials: HJ
authors.lastname: Durrington
authors.forename: Helen V
authors.initials: HV
authors.lastname: Firth
authors.forename: Charlotte
authors.initials: C
authors.lastname: Patient
authors.forename: Mark
authors.initials: M
authors.lastname: Belham
authors.forename: David
authors.initials: D
authors.lastname: Jayne
authors.forename: Nigel
authors.initials: N
authors.lastname: Burrows
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Morrell
authors.forename: Edwin R
authors.initials: ER
authors.lastname: Chilvers
mesh_terms: D000328:Adult; D001165:Arteriovenous Malformations / Q000235:genetics*; D002196:Capillaries / Q000002:abnormalities; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011249:Pregnancy Complications, Cardiovascular / Q000235:genetics*; D020729:p120 GTPase Activating Protein / Q000235:genetics* / Q000378:metabolism
chemical_list: C557248:RASA1 protein, human; D020729:p120 GTPase Activating Protein