Human MutationVolume 29, Issue 7 p. 959-965 Research Article Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations† Nicole Revencu, Nicole Revencu Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorLaurence M. Boon, Laurence M. Boon Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, BelgiumSearch for more papers by this authorJohn B. Mulliken, John B. Mulliken Vascular Anomalies Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorOdile Enjolras, Odile Enjolras Centre Multidisciplinaire des Angiomes de l'enfant, AP-HP, Hôpital d'enfants Armand-Trousseau, Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Paris, FranceSearch for more papers by this authorMaria Rosa Cordisco, Maria Rosa Cordisco Department of Pediatric Dermatology, Hospital de Pediatria Dr. J.P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorPatricia E. Burrows, Patricia E. Burrows Vascular Anomalies Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorPhilippe Clapuyt, Philippe Clapuyt Department of Radiology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorFrank Hammer, Frank Hammer Department of Radiology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorJosée Dubois, Josée Dubois Department of Medical Imaging, Sainte-Justine Mother-Child University Hospital, Montreal, CanadaSearch for more papers by this authorEulalia Baselga, Eulalia Baselga Hospital de la Santa Creu I Sant Pau, Barcelona, SpainSearch for more papers by this authorFrancesco Brancati, Francesco Brancati IRCCS CSS, Mendel Institute, Rome, ItalySearch for more papers by this authorRobin Carder, Robin Carder Southwestern Medical Center, Dallas, TexasSearch for more papers by this authorJosé Miguel Ceballos Quintal, José Miguel Ceballos Quintal Laboratorio de Genética, Universidad Autónoma de Yucatán Mérida, Yucatán, MexicoSearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola IRCCS CSS, Mendel Institute, Rome, ItalySearch for more papers by this authorGayle Fischer, Gayle Fischer Royal North Shore Hospital, St Leonards, AustraliaSearch for more papers by this authorIlona J. Frieden, Ilona J. Frieden Departement of Dermatology, School of Medicine, University of California, San Francisco, San Francisco, CaliforniaSearch for more papers by this authorMaria Garzon, Maria Garzon Department of Dermatology, Columbia University, New York, New YorkSearch for more papers by this authorJohn Harper, John Harper Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London, United KingdomSearch for more papers by this authorJennifer Johnson-Patel, Jennifer Johnson-Patel Robert E. Bush Naval Hospital, Twenty-nine Palms, CaliforniaSearch for more papers by this authorChristine Labrèze, Christine Labrèze Hôpital Pellegrin Enfants, Bordeaux, FranceSearch for more papers by this authorLoreto Martorell, Loreto Martorell Genetica Molecular, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorHarriet J. Paltiel, Harriet J. Paltiel Vascular Anomalies Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorAnnette Pohl, Annette Pohl Zentrum fur Kinderheilkunde und Jugendmedizin, Freiburg, GermanySearch for more papers by this authorJulie Prendiville, Julie Prendiville Division of Pediatric Dermatology, Department of Pediatrics, University of British Columbia, British Columbia Children's Hospital, Vancouver, CanadaSearch for more papers by this authorIsabelle Quere, Isabelle Quere Centre Hospitalier Universitaire, Montpellier, FranceSearch for more papers by this authorDawn H. Siegel, Dawn H. Siegel Departement of Dermatology, School of Medicine, University of California, San Francisco, San Francisco, CaliforniaSearch for more papers by this authorEnza Maria Valente, Enza Maria Valente IRCCS CSS, Mendel Institute, Rome, ItalySearch for more papers by this authorAnnet Van Hagen, Annet Van Hagen VU Medical Center, Amsterdam, NetherlandsSearch for more papers by this authorLiselot Van Hest, Liselot Van Hest VU Medical Center, Amsterdam, NetherlandsSearch for more papers by this authorKeith K. Vaux, Keith K. Vaux Department of Pediatrics, Division of Dysmorphology and Teratology, University of California, San Diego, San Diego, CaliforniaSearch for more papers by this authorAsuncion Vicente, Asuncion Vicente Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorLisa Weibel, Lisa Weibel Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London, United KingdomSearch for more papers by this authorDavid Chitayat, David Chitayat The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, CanadaSearch for more papers by this authorMiikka Vikkula, Corresponding Author Miikka Vikkula [email protected] Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, BelgiumHuman Molecular Genetics (GEHU), de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74(+5), bp. 75.39, B-1200 Brussels, BelgiumSearch for more papers by this author Nicole Revencu, Nicole Revencu Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorLaurence M. Boon, Laurence M. Boon Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, BelgiumSearch for more papers by this authorJohn B. Mulliken, John B. Mulliken Vascular Anomalies Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorOdile Enjolras, Odile Enjolras Centre Multidisciplinaire des Angiomes de l'enfant, AP-HP, Hôpital d'enfants Armand-Trousseau, Service de Chirurgie Maxillo-Faciale et Chirurgie Plastique, Paris, FranceSearch for more papers by this authorMaria Rosa Cordisco, Maria Rosa Cordisco Department of Pediatric Dermatology, Hospital de Pediatria Dr. J.P. Garrahan, Buenos Aires, ArgentinaSearch for more papers by this authorPatricia E. Burrows, Patricia E. Burrows Vascular Anomalies Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorPhilippe Clapuyt, Philippe Clapuyt Department of Radiology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorFrank Hammer, Frank Hammer Department of Radiology, Cliniques universitaires Saint-Luc, Université catholique de Louvain, Brussels, BelgiumSearch for more papers by this authorJosée Dubois, Josée Dubois Department of Medical Imaging, Sainte-Justine Mother-Child University Hospital, Montreal, CanadaSearch for more papers by this authorEulalia Baselga, Eulalia Baselga Hospital de la Santa Creu I Sant Pau, Barcelona, SpainSearch for more papers by this authorFrancesco Brancati, Francesco Brancati IRCCS CSS, Mendel Institute, Rome, ItalySearch for more papers by this authorRobin Carder, Robin Carder Southwestern Medical Center, Dallas, TexasSearch for more papers by this authorJosé Miguel Ceballos Quintal, José Miguel Ceballos Quintal Laboratorio de Genética, Universidad Autónoma de Yucatán Mérida, Yucatán, MexicoSearch for more papers by this authorBruno Dallapiccola, Bruno Dallapiccola IRCCS CSS, Mendel Institute, Rome, ItalySearch for more papers by this authorGayle Fischer, Gayle Fischer Royal North Shore Hospital, St Leonards, AustraliaSearch for more papers by this authorIlona J. Frieden, Ilona J. Frieden Departement of Dermatology, School of Medicine, University of California, San Francisco, San Francisco, CaliforniaSearch for more papers by this authorMaria Garzon, Maria Garzon Department of Dermatology, Columbia University, New York, New YorkSearch for more papers by this authorJohn Harper, John Harper Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London, United KingdomSearch for more papers by this authorJennifer Johnson-Patel, Jennifer Johnson-Patel Robert E. Bush Naval Hospital, Twenty-nine Palms, CaliforniaSearch for more papers by this authorChristine Labrèze, Christine Labrèze Hôpital Pellegrin Enfants, Bordeaux, FranceSearch for more papers by this authorLoreto Martorell, Loreto Martorell Genetica Molecular, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorHarriet J. Paltiel, Harriet J. Paltiel Vascular Anomalies Center, Division of Plastic Surgery and Department of Radiology, Children's Hospital, Harvard Medical School, Boston, MassachusettsSearch for more papers by this authorAnnette Pohl, Annette Pohl Zentrum fur Kinderheilkunde und Jugendmedizin, Freiburg, GermanySearch for more papers by this authorJulie Prendiville, Julie Prendiville Division of Pediatric Dermatology, Department of Pediatrics, University of British Columbia, British Columbia Children's Hospital, Vancouver, CanadaSearch for more papers by this authorIsabelle Quere, Isabelle Quere Centre Hospitalier Universitaire, Montpellier, FranceSearch for more papers by this authorDawn H. Siegel, Dawn H. Siegel Departement of Dermatology, School of Medicine, University of California, San Francisco, San Francisco, CaliforniaSearch for more papers by this authorEnza Maria Valente, Enza Maria Valente IRCCS CSS, Mendel Institute, Rome, ItalySearch for more papers by this authorAnnet Van Hagen, Annet Van Hagen VU Medical Center, Amsterdam, NetherlandsSearch for more papers by this authorLiselot Van Hest, Liselot Van Hest VU Medical Center, Amsterdam, NetherlandsSearch for more papers by this authorKeith K. Vaux, Keith K. Vaux Department of Pediatrics, Division of Dysmorphology and Teratology, University of California, San Diego, San Diego, CaliforniaSearch for more papers by this authorAsuncion Vicente, Asuncion Vicente Department of Dermatology, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorLisa Weibel, Lisa Weibel Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London, United KingdomSearch for more papers by this authorDavid Chitayat, David Chitayat The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, CanadaSearch for more papers by this authorMiikka Vikkula, Corresponding Author Miikka Vikkula [email protected] Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, BelgiumHuman Molecular Genetics (GEHU), de Duve Institute, Université catholique de Louvain, Avenue Hippocrate 74(+5), bp. 75.39, B-1200 Brussels, BelgiumSearch for more papers by this author First published: 29 April 2008 https://doi.org/10.1002/humu.20746Citations: 312 † Communicated by Peter Byers AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Abstract 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. 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Citing Literature Volume29, Issue7July 2008Pages 959-965 ReferencesRelatedInformation

Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused byRASA1 mutations