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RASA1 and Capillary Malformation–Arteriovenous Malformation 

RASA1 and Capillary Malformation–Arteriovenous Malformation
Chapter:
RASA1 and Capillary Malformation–Arteriovenous Malformation
Author(s):

Nicole Revencu

, Laurence M. Boon

, John B. Mulliken

, and Miikka Vikkula

DOI:
10.1093/med/9780199934522.003.0084
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date: 25 February 2021

RASA1 encodes P120RASGTPase-activating protein (P120RASGAP), a small intracellular protein, involved in RAS regulation. Mutations in this gene result in capillary malformation–arteriovenous malformation (CM–AVM; OMIM 608354), an autosomal dominant disorder (Eerola et al., 2003) with high penetrance and variable expressivity. Small, multifocal and randomly distributed capillary malformations are the hallmark of the phenotype. In addition, about one-third of patients have a fast-flow lesion, which can involve the skin, the subcutaneous tissue, the muscles, the bones, the brain or the spine. Parkes Weber syndrome is part of the phenotype. So far, 101 distinct mutations have been identified in 133 unrelated families and most of them suggest loss-of-function (de Wijn et al., 2012; Eerola et al., 2003; Hershkovitz et al., 2008a; Hershkovitz et al., 2008b; Revencu et al., submitted; Revencu et al., 2008; Thiex et al., 2010; Wooderchak-Donahue et al., 2012).

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