RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation. Issue 12 (10th October 2013)

• Record Type: Journal Article
• Authors: Revencu, Nicole; Boon, Laurence M.; Mendola, Antonella; Cordisco, Maria Rosa; Dubois, Josée; Clapuyt, Philippe; Hammer, Frank; Amor, David J.; Irvine, Alan D.; Baselga, Eulalia; Dompmartin, Anne; Syed, Samira; Martin‐Santiago, Ana; Ades, Lesley; Collins, Felicity; Smith, Janine; Sandaradura, Sarah; Barrio, Victoria R.; Burrows, Patricia E.; Blei, Francine; Cozzolino, Mariarosaria; Brunetti‐Pierri, Nicola; Vicente, Asuncion; Abramowicz, Marc; Désir, Julie; Vilain, Catheline; Chung, Wendy K.; Wilson, Ashley; Gardiner, Carol A.; Dwight, Yim; Lord, David J.E.; Fishman, Leona; Cytrynbaum, Cheryl; Chamlin, Sarah; Ghali, Fred; Gilaberte, Yolanda; Joss, Shelagh; Boente, Maria del C.; Léauté‐Labrèze, Christine; Delrue, Marie‐Ange; Bayliss, Susan; Martorell, Loreto; González‐Enseñat, Maria‐Antonia; Mazereeuw‐Hautier, Juliette; O'Donnell, Brid; Bessis, Didier; Pyeritz, Reed E.; Salhi, Aicha; Tan, Oon T.; Wargon, Orli; Mulliken, John B.; Vikkula, Miikka;
• Is Part Of: Human mutation. Volume 34:Issue 12(2013:Dec.)
• Page Start: 1632
• Page End: 1641
• Publication Date: 2013-10-10
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22431
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22431-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Capillary malformation‐arteriovenous malformation (CM‐AVM) is an autosomal‐dominant disorder, caused by heterozygous <italic>RASA1</italic> mutations, and manifesting multifocal CMs and high risk for fast‐flow lesions. In this study we showed that <italic>RASA1</italic> mutations are specifically identified in patients with CM‐AVM, in about 2/3 of them. The phenotypes and genotypes of 68 novel families are reported. This study expands the phenotypic spectrum to include zones of numerous small pale halos with central punctate red spots in the extremities. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3wjb50bx" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>