Journal article

RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation

Nicole Revencu, Laurence M Boon, Antonella Mendola, Maria Rosa Cordisco, Josee Dubois, Philippe Clapuyt, Frank Hammer, David J Amor, Alan D Irvine, Eulalia Baselga, Anne Dompmartin, Samira Syed, Ana Martin-Santiago, Lesley Ades, Felicity Collins, Janine Smith, Sarah Sandaradura, Victoria R Barrio, Patricia E Burrows, Francine Blei Show all

HUMAN MUTATION | WILEY | Published : 2013


Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal-dominant disorder, caused by heterozygous RASA1 mutations, and manifesting multifocal CMs and high risk for fast-flow lesions. A limited number of patients have been reported, raising the question of the phenotypic borders. We identified new patients with a clinical diagnosis of CM-AVM, and patients with overlapping phenotypes. RASA1 was screened in 261 index patients with: CM-AVM (n = 100), common CM(s) (port-wine stain; n = 100), Sturge-Weber syndrome (n = 37), or isolated AVM(s) (n = 24). Fifty-eight distinct RASA1 mutations (43 novel) were identified in 68 index patients with CM-AVM and none in patients with other..

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Funding Acknowledgements

Contract grant sponsors: Cliniques universitaires Saint-Luc, Universite catholique de Louvain; Fonds de la Recherche Scientifique Medicale (FRSM); Interuniversity Attraction Poles initiated by the Belgian Federal Science Policy, network P7/43, F.R.S.-FNRS (Fonds de la Recherche Scientifique); Communaute francaise de Wallonie-Bruxelles; la Lotterie nationale.