Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Nicole Revencu; Laurence M. Boon; John B. Mulliken; Odile Eniolras; Maria Rosa Cordisco; Patricia E. Burrows; Philippe Clapuyt; Frank Hammer; Josee Dubois; Eulalia Baselga; Francesco Brancati; Robin Carder; Jose Miguel Ceballos Quintal; Bruno Dallapiccola; Gayle Fischer; Ilona J. Frieden; Maria Garzon; John Harper; Jennifer Johnson-Patel; Christine Labreze; Loreto Martorell; Harriet J. Paltiel; Annette Pohl; Julie Prendiville; Isabelle Quere; Dawn H. Siegel; Enza Maria Valente; Annet Van Hagen; Liselot Van Hest; Keith K. Vaux; Asuncion Vicente; Lisa Weibel; David Chitayat; Miikka Vikkulal

doi:10.1002/humu.20746

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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

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Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations

Nicole Revencu, Laurence M. Boon, John B. Mulliken, Odile Eniolras, Maria Rosa Cordisco, Patricia E. Burrows, Philippe Clapuyt, Frank Hammer, Josee Dubois, Eulalia Baselga, …

Human mutation, Vol.29(7), pp.959-965

07/2008

DOI: https://doi.org/10.1002/humu.20746

PMID: 18446851

Résumé

Genetics & Heredity

Life Sciences & Biomedicine

Science & Technology

Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the hallmark of the disorder. Importantly, one-third had fast,flow vascular lesions. Among them, we observed severe intracranial AVMs, including vein of Galen aneurysmal malformation, which were symptomatic at birth or during infancy, extracranial AVM of the face and extremities, and Parkes Weber syndrome (PKWS), previously considered sporadic and nongenetic. These fast-flow lesions can be differed from the other two genetic AVMs seen in hereditary hemorrhagic telangiectasia (HHT) and in phosphatase and tensin homolog (PTEN) hamartomatous tumor syndrome. Finally, some CM-AVM patients had neural tumors reminiscent of neurofibromatosis type 1 or 2. This is the first extensive study on the phenotypes associated with RASA1 mutations, and unravels their wide heterogeneity.

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Détails

Titre: Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations
Créateurs - sans rôle: Nicole Revencu - Catholic Univ Louvain, Lab Human Mol Genet GEHU, Duve Inst, B-1200 Brussels, Belgium
Laurence M. Boon - Catholic Univ Louvain, Lab Human Mol Genet GEHU, Duve Inst, B-1200 Brussels, Belgium
John B. Mulliken - Harvard Univ, Sch Med, Vasc Anomalies Ctr, Div Plast Surg, Boston, MA USA
Odile Eniolras - Ctr Multidisciplinary Angiomes Enfant, AP HP, Serv Chirurg Maxillo Faciale & Chirurg Plast, Hop Enfants Armand Trousseau, Paris, France
Maria Rosa Cordisco - Hosp Pediat Dr JP Garrahan, Dept Pediat Dermatol, Buenos Aires, DF, Argentina
Patricia E. Burrows - Harvard Univ, Sch Med, Vasc Anomalies Ctr, Div Plast Surg, Boston, MA USA
Philippe Clapuyt - Univ Catholique Louvain, Clin Univ St Luc, Dept Radiol, B-1200 Brussels, Belgium
Frank Hammer - Univ Catholique Louvain, Clin Univ St Luc, Dept Radiol, B-1200 Brussels, Belgium
Josee Dubois - Sainte Justine Mother Child Univ Hosp, Dept Med Imaging, Montreal, PQ, Canada
Eulalia Baselga - Hosp Santa Creu & Sant Pau, Barcelona, Spain
Francesco Brancati - Mendel Inst Med Genet & Twin Res, IRCCS CSS, Rome, Italy
Robin Carder - Univ Texas Dallas, SW Med Ctr, Dallas, TX USA
Jose Miguel Ceballos Quintal - Univ Autonoma Yucatan Merida, Genet Lab, Yucatan, Mexico
Bruno Dallapiccola - Mendel Inst Med Genet & Twin Res, IRCCS CSS, Rome, Italy
Gayle Fischer - Royal N Shore Hosp, St Leonards, NSW 2065, Australia
Ilona J. Frieden - Univ Calif San Francisco, Sch Med, Dept Dermatol, San Francisco, CA 94143 USA
Maria Garzon - Columbia Univ, Dept Dermatol, New York, NY 10027 USA
John Harper - Great Ormond St Hosp Sick Children, Dept Pediat Dermatol, London WC1N 3JH, England
Jennifer Johnson-Patel - Robert E Bush Naval Hosp, Twenty Nine Palms, CA USA
Christine Labreze - Hop Pellegrin Enfants, Bordeaux, France
Loreto Martorell - Hosp San Juan Dios, Barcelona, Spain
Harriet J. Paltiel - Harvard Univ, Sch Med, Vasc Anomalies Ctr, Div Plast Surg, Boston, MA USA
Annette Pohl - Zentrum Kinderhelkunde & Jugendmed, Freiburg, Germany
Julie Prendiville - Univ British Columbia, British Columbia Childrens Hosp, Div Pediat Dermatol, Dept Pediat, Vancouver, BC, Canada
Isabelle Quere - Ctr Hosp Univ, Montpellier, France
Dawn H. Siegel - Univ Calif San Francisco, Sch Med, Dept Dermatol, San Francisco, CA 94143 USA
Enza Maria Valente - Mendel Inst Med Genet & Twin Res, IRCCS CSS, Rome, Italy
Annet Van Hagen - VU Med Ctr, Amsterdam, Netherlands
Liselot Van Hest - VU Med Ctr, Amsterdam, Netherlands
Keith K. Vaux - Univ Calif San Diego, Dept Pediat, Div Dysmorphol & Teratol, San Diego, CA 92103 USA
Asuncion Vicente - Hosp San Juan Dios, Dept Dermatol, Barcelona, Spain
Lisa Weibel - Great Ormond St Hosp Sick Children, Dept Pediat Dermatol, London WC1N 3JH, England
David Chitayat - Mt Sinai Hosp, Prenatal Diag & Med Genet Program, Toronto, ON M5G 1X5, Canada
Miikka Vikkulal - Catholic Univ Louvain, Lab Human Mol Genet GEHU, Duve Inst, B-1200 Brussels, Belgium
Détails de publication: Human mutation, Vol.29(7), pp.959-965
Éditeur: Wiley
Nombre de pages: 7
Identifiants: 99139133509311
Unité académique: Institut Desbrest d Epidemiologie et de Sante Publique - IDESP
Langue: English
Type de ressource: Journal article