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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation-Arteriovenous Malformation
Human Mutation, Volume 34, No. 12, Year 2013
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Description
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 phenotypes. A novel clinical feature was identified: cutaneous zones of numerous small white pale halos with a central red spot. An additional question addressed in this study was the "second-hit" hypothesis as a pathophysiological mechanism for CM-AVM. One tissue from a patient with a germline RASA1 mutation was available. The analysis of the tissue showed loss of the wild-type RASA1 allele. In conclusion, mutations in RASA1 underscore the specific CM-AVM phenotype and the clinical diagnosis is based on identifying the characteristic CMs. The high incidence of fast-flow lesions warrants careful clinical and radiologic examination, and regular follow-up. © 2013 WILEY PERIODICALS, INC.
Authors & Co-Authors
Revencu, Nicole
Unknown Affiliation
Boon, Laurence Myriam
Unknown Affiliation
Mendola, A.
Unknown Affiliation
Cordisco, Maria Rosa
Unknown Affiliation
Dubois, Josée
Unknown Affiliation
Clapuyt, Philippe
Unknown Affiliation
Hammer, Frank Dieter
Unknown Affiliation
Amor, D. John O.
Unknown Affiliation
Irvine, Alan D.
Unknown Affiliation
Baselga, Eulalia
Unknown Affiliation
Dompmartin, Anne
Unknown Affiliation
Syed, Samira
Unknown Affiliation
Martin-Santiago, Ana
Unknown Affiliation
Adés, Lesley C.
Unknown Affiliation
Collins, F.
Unknown Affiliation
Smith, Janine
Unknown Affiliation
Sandaradura, Sarah Annabella
Unknown Affiliation
Barrio, Victoria R.
Unknown Affiliation
Burrows, Patricia E.
Unknown Affiliation
Blei, Francine
Unknown Affiliation
Cozzolino, Mariarosaria
Unknown Affiliation
Brunetti-Pierri, Nicola
Unknown Affiliation
Vicente, Asuncion
Unknown Affiliation
Abramowicz, Marc Joel
Unknown Affiliation
Désir, Julie
Unknown Affiliation
Vilain, Catheline N.
Unknown Affiliation
Chung, Wendy K.
Unknown Affiliation
Wilson, Ashley
Unknown Affiliation
Gardiner, Carol A.
Unknown Affiliation
Dwight, Yim
Unknown Affiliation
Lord, David J.E.
Unknown Affiliation
Fishman, Leona
Unknown Affiliation
Cytrynbaum, Cheryl
Unknown Affiliation
Chamlin, Sarah
Unknown Affiliation
Ghali, Fred
Unknown Affiliation
Gilaberte, Yolanda
Unknown Affiliation
Joss, Shelagh K.
Unknown Affiliation
del Carmen Boente, María
Unknown Affiliation
Léauté-Labréze, Christine
Unknown Affiliation
Delrue, Marie Ange
Unknown Affiliation
Mallory, Susan B.
Unknown Affiliation
Martorell, Loreto
Unknown Affiliation
González-Enseñat, M. A.
Unknown Affiliation
Mazereeuw-Hautier, Juliette H.
Unknown Affiliation
O'Donnell, Brid
Unknown Affiliation
Bessis, Didier
Unknown Affiliation
Pyeritz, Reed Edwin
Unknown Affiliation
Salhi, Aïcha
Unknown Affiliation
Tan, Oon T.
Unknown Affiliation
Wargon, Orli
Unknown Affiliation
Mulliken, John B.
Unknown Affiliation
Vikkula, Miikka
Unknown Affiliation
Statistics
Citations: 221
Authors: 52
Affiliations: 37
Identifiers
Doi:
10.1002/humu.22431
ISSN:
10597794
e-ISSN:
10981004
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Study Design
Cohort Study