RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Identifieur interne : 002F70 ( Istex/Curation ); précédent : 002F69; suivant : 002F71RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation
Auteurs : Nicole Revencu [Belgique] ; Laurence M. Boon [Belgique] ; Antonella Mendola [Belgique] ; Maria Rosa Cordisco [Argentine] ; Josée Dubois [Canada] ; Philippe Clapuyt [Belgique] ; Frank Hammer [Belgique] ; David J. Amor [Australie] ; Alan D. Irvine [Irlande (pays)] ; Eulalia Baselga [Espagne] ; Anne Dompmartin [France] ; Samira Syed [Royaume-Uni] ; Ana Martin-Santiago [Espagne] ; Lesley Ades [Australie] ; Felicity Collins [Australie] ; Janine Smith [Australie] ; Sarah Sandaradura [Australie] ; Victoria R. Barrio [États-Unis] ; Patricia E. Burrows [États-Unis] ; Francine Blei [États-Unis] ; Mariarosaria Cozzolino [Italie] ; Nicola Brunetti-Pierri [Italie] ; Asuncion Vicente [Espagne] ; Marc Abramowicz [Belgique] ; Julie Désir [Belgique] ; Catheline Vilain [Belgique] ; Wendy K. Chung [États-Unis] ; Ashley Wilson [États-Unis] ; Carol A. Gardiner [Royaume-Uni] ; Yim Dwight ; David J. E. Lord [Australie] ; Leona Fishman [Canada] ; Cheryl Cytrynbaum [Canada] ; Sarah Chamlin [États-Unis] ; Fred Ghali ; Yolanda Gilaberte [Espagne] ; Shelagh Joss [Royaume-Uni] ; Maria Del C. Boente [Argentine] ; Christine Léauté-Labrèze [France] ; Marie-Ange Delrue [France] ; Susan Bayliss ; Loreto Martorell [Espagne] ; Maria-Antonia González-Ense At [Espagne] ; Juliette Mazereeuw-Hautier [France] ; Brid O'Donnell [Irlande (pays)] ; Didier Bessis [France] ; Reed E. Pyeritz [États-Unis] ; Aicha Salhi [Algérie] ; Oon T. Tan [États-Unis] ; Orli Wargon [Australie] ; John B. Mulliken [États-Unis] ; Miikka Vikkula [Belgique]Source :
- Human Mutation [ 1059-7794 ] ; 2013-12.
Descripteurs français
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
- Allele, Anomaly, Capillary malformation, Clinical diagnosis, Dermatology, Dhplc, Eerola, Family history, Family members, Galen aneurysmal malformation, Genet, Genetics, Germline, Germline mutation, Germline rasa1 mutation, Halo, Hereditary, Hereditary hemorrhagic telangiectasia, Hershkovitz, Hospital sant joan, Human mutation, Index patients, Lesion, Malformation, Multifocal, Mutation, Parkes, Parkes weber lesion, Parkes weber syndrome, Pediatric dermatology, Phenotype, Phenotypic, Rasa1, Rasa1 gene, Rasa1 mutation, Rasa1 mutations, Rasa1 mutations cause, Revencu, Right foot, Silico analysis, Somatic, Syndrome, Telangiectasia, Thiex, Universite, Universite catholique, Vascular, Vascular lesions, Vascular malformation, Vascular malformations, Vikkula, Weber.
- Teeft :
- Allele, Anomaly, Capillary malformation, Clinical diagnosis, Dermatology, Dhplc, Eerola, Family history, Family members, Galen aneurysmal malformation, Genet, Genetics, Germline, Germline mutation, Germline rasa1 mutation, Halo, Hereditary, Hereditary hemorrhagic telangiectasia, Hershkovitz, Hospital sant joan, Human mutation, Index patients, Lesion, Malformation, Multifocal, Mutation, Parkes, Parkes weber lesion, Parkes weber syndrome, Pediatric dermatology, Phenotype, Phenotypic, Rasa1, Rasa1 gene, Rasa1 mutation, Rasa1 mutations, Rasa1 mutations cause, Revencu, Right foot, Silico analysis, Somatic, Syndrome, Telangiectasia, Thiex, Universite, Universite catholique, Vascular, Vascular lesions, Vascular malformation, Vascular malformations, Vikkula, Weber.
Abstract
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.
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DOI: 10.1002/humu.22431
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Yim Dwight<affiliation><mods:affiliation>Kaiser Permanente Medical Center, Hawaii, Honolulu</mods:affiliation><wicri:noCountry code="subField">Honolulu</wicri:noCountry></affiliation><affiliation><mods:affiliation>Pediatric Dermatology of North Texas, Texas, Grapevine</mods:affiliation><wicri:noCountry code="subField">Grapevine</wicri:noCountry></affiliation><affiliation><mods:affiliation>Pediatric Dermatology, St. Louis Children's Hospital, Missouri, St. Louis</mods:affiliation><wicri:noCountry code="subField">Louis</wicri:noCountry></affiliation>Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">RASA1 Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation</title><author><name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. Boon</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Cordisco, Maria Rosa" sort="Cordisco, Maria Rosa" uniqKey="Cordisco M" first="Maria Rosa" last="Cordisco">Maria Rosa Cordisco</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital de Pediatria Prof. Dr. J.P. Garrahan, Buenos Aires, Argentina</mods:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Department of Dermatology, Hospital de Pediatria Prof. Dr. J.P. Garrahan, Buenos Aires</wicri:regionArea></affiliation></author><author><name sortKey="Dubois, Josee" sort="Dubois, Josee" uniqKey="Dubois J" first="Josée" last="Dubois">Josée Dubois</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Imaging, Sainte‐Justine Mother‐Child University Hospital, Montreal, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Imaging, Sainte‐Justine Mother‐Child University Hospital, Montreal</wicri:regionArea></affiliation></author><author><name sortKey="Clapuyt, Philippe" sort="Clapuyt, Philippe" uniqKey="Clapuyt P" first="Philippe" last="Clapuyt">Philippe Clapuyt</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Hammer, Frank" sort="Hammer, Frank" uniqKey="Hammer F" first="Frank" last="Hammer">Frank Hammer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J." last="Amor">David J. Amor</name><affiliation wicri:level="1"><mods:affiliation>Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, 3052, Parkville, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, 3052, Parkville</wicri:regionArea></affiliation></author><author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name><affiliation wicri:level="1"><mods:affiliation>Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Baselga, Eulalia" sort="Baselga, Eulalia" uniqKey="Baselga E" first="Eulalia" last="Baselga">Eulalia Baselga</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London</wicri:regionArea></affiliation></author><author><name sortKey="Martin Antiago, Ana" sort="Martin Antiago, Ana" uniqKey="Martin Antiago A" first="Ana" last="Martin-Santiago">Ana Martin-Santiago</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Son Espases University Hospital, Palma de Mallorca, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Son Espases University Hospital, Palma de Mallorca</wicri:regionArea></affiliation></author><author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Ades">Lesley Ades</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Smith, Janine" sort="Smith, Janine" uniqKey="Smith J" first="Janine" last="Smith">Janine Smith</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Sandaradura, Sarah" sort="Sandaradura, Sarah" uniqKey="Sandaradura S" first="Sarah" last="Sandaradura">Sarah Sandaradura</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Barrio, Victoria R" sort="Barrio, Victoria R" uniqKey="Barrio V" first="Victoria R." last="Barrio">Victoria R. Barrio</name><affiliation wicri:level="3"><mods:affiliation>Department of Pediatrics and Dermatology at the University of California at San Diego and Rady Children's Hospital, California, San Diego</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Department of Pediatrics and Dermatology at the University of California at San Diego and Rady Children's Hospital, California</wicri:orgArea></affiliation></author><author><name sortKey="Burrows, Patricia E" sort="Burrows, Patricia E" uniqKey="Burrows P" first="Patricia E." last="Burrows">Patricia E. Burrows</name><affiliation wicri:level="2"><mods:affiliation>Department of Radiology, Roosevelt Hospital, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Radiology, Roosevelt Hospital, New York</wicri:cityArea></affiliation></author><author><name sortKey="Blei, Francine" sort="Blei, Francine" uniqKey="Blei F" first="Francine" last="Blei">Francine Blei</name><affiliation wicri:level="2"><mods:affiliation>Vascular Birthmark Institute of New York, Roosevelt Hospital, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Vascular Birthmark Institute of New York, Roosevelt Hospital, New York</wicri:cityArea></affiliation></author><author><name sortKey="Cozzolino, Mariarosaria" sort="Cozzolino, Mariarosaria" uniqKey="Cozzolino M" first="Mariarosaria" last="Cozzolino">Mariarosaria Cozzolino</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Brunetti Ierri, Nicola" sort="Brunetti Ierri, Nicola" uniqKey="Brunetti Ierri N" first="Nicola" last="Brunetti-Pierri">Nicola Brunetti-Pierri</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Vicente, Asuncion" sort="Vicente, Asuncion" uniqKey="Vicente A" first="Asuncion" last="Vicente">Asuncion Vicente</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Abramowicz, Marc" sort="Abramowicz, Marc" uniqKey="Abramowicz M" first="Marc" last="Abramowicz">Marc Abramowicz</name><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Desir, Julie" sort="Desir, Julie" uniqKey="Desir J" first="Julie" last="Désir">Julie Désir</name><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation wicri:level="2"><mods:affiliation>Departments of Pediatrics and Medicine, Columbia University, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Departments of Pediatrics and Medicine, Columbia University, New York</wicri:cityArea></affiliation></author><author><name sortKey="Wilson, Ashley" sort="Wilson, Ashley" uniqKey="Wilson A" first="Ashley" last="Wilson">Ashley Wilson</name><affiliation wicri:level="2"><mods:affiliation>Morgan Stanley Children's Hospital of New York, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Morgan Stanley Children's Hospital of New York, New York</wicri:cityArea></affiliation></author><author><name sortKey="Gardiner, Carol A" sort="Gardiner, Carol A" uniqKey="Gardiner C" first="Carol A." last="Gardiner">Carol A. Gardiner</name><affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Service, Nottingham University Hospital, Nottingham, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Service, Nottingham University Hospital, Nottingham</wicri:regionArea></affiliation></author><author><name sortKey="Dwight, Yim" sort="Dwight, Yim" uniqKey="Dwight Y" first="Yim" last="Dwight">Yim Dwight</name><affiliation><mods:affiliation>Kaiser Permanente Medical Center, Hawaii, Honolulu</mods:affiliation><wicri:noCountry code="subField">Honolulu</wicri:noCountry></affiliation></author><author><name sortKey="Lord, David J E" sort="Lord, David J E" uniqKey="Lord D" first="David J. E." last="Lord">David J. E. Lord</name><affiliation wicri:level="1"><mods:affiliation>Vascular Birthmarks Program, Children's Hospital at Westmead, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Vascular Birthmarks Program, Children's Hospital at Westmead, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Fishman, Leona" sort="Fishman, Leona" uniqKey="Fishman L" first="Leona" last="Fishman">Leona Fishman</name><affiliation wicri:level="1"><mods:affiliation>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><affiliation wicri:level="1"><mods:affiliation>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Chamlin, Sarah" sort="Chamlin, Sarah" uniqKey="Chamlin S" first="Sarah" last="Chamlin">Sarah Chamlin</name><affiliation wicri:level="3"><mods:affiliation>Division of Pediatric Dermatology, Children's Memorial Hospital, Illinois, Chicago</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName><wicri:orgArea>Division of Pediatric Dermatology, Children's Memorial Hospital, Illinois</wicri:orgArea></affiliation></author><author><name sortKey="Ghali, Fred" sort="Ghali, Fred" uniqKey="Ghali F" first="Fred" last="Ghali">Fred Ghali</name><affiliation><mods:affiliation>Pediatric Dermatology of North Texas, Texas, Grapevine</mods:affiliation><wicri:noCountry code="subField">Grapevine</wicri:noCountry></affiliation></author><author><name sortKey="Gilaberte, Yolanda" sort="Gilaberte, Yolanda" uniqKey="Gilaberte Y" first="Yolanda" last="Gilaberte">Yolanda Gilaberte</name><affiliation wicri:level="1"><mods:affiliation>Unit of Dermatology, Hospital San Jorge, Huesca, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unit of Dermatology, Hospital San Jorge, Huesca</wicri:regionArea></affiliation></author><author><name sortKey="Joss, Shelagh" sort="Joss, Shelagh" uniqKey="Joss S" first="Shelagh" last="Joss">Shelagh Joss</name><affiliation wicri:level="1"><mods:affiliation>West of Scotland Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Scotland, G51 4TF, Glasgow, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Scotland, G51 4TF, Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Boente, Maria Del C" sort="Boente, Maria Del C" uniqKey="Boente M" first="Maria Del C." last="Boente">Maria Del C. Boente</name><affiliation wicri:level="1"><mods:affiliation>Unit of Dermatology, Hospital del Niño Jesús, Tucumán, Argentina</mods:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Unit of Dermatology, Hospital del Niño Jesús, Tucumán</wicri:regionArea></affiliation></author><author><name sortKey="Leaute Abreze, Christine" sort="Leaute Abreze, Christine" uniqKey="Leaute Abreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name><affiliation wicri:level="1"><mods:affiliation>Centre de Référence Maladies rares de la peau, CHU de Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Maladies rares de la peau, CHU de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Delrue, Marie Nge" sort="Delrue, Marie Nge" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, CHU Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Bayliss, Susan" sort="Bayliss, Susan" uniqKey="Bayliss S" first="Susan" last="Bayliss">Susan Bayliss</name><affiliation><mods:affiliation>Pediatric Dermatology, St. Louis Children's Hospital, Missouri, St. Louis</mods:affiliation><wicri:noCountry code="subField">Louis</wicri:noCountry></affiliation></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><affiliation wicri:level="1"><mods:affiliation>Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Genética Molecular, Hospital Sant Joan de Déu, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Gonzalez Nse At, Maria Ntonia" sort="Gonzalez Nse At, Maria Ntonia" uniqKey="Gonzalez Nse At M" first="Maria-Antonia" last="González-Ense At">Maria-Antonia González-Ense At</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Mazereeuw Autier, Juliette" sort="Mazereeuw Autier, Juliette" uniqKey="Mazereeuw Autier J" first="Juliette" last="Mazereeuw-Hautier">Juliette Mazereeuw-Hautier</name><affiliation wicri:level="1"><mods:affiliation>Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="O Donnell, Brid" sort="O Donnell, Brid" uniqKey="O Donnell B" first="Brid" last="O'Donnell">Brid O'Donnell</name><affiliation wicri:level="1"><mods:affiliation>Departement of Dermatology, Children's University Hospital, 1, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Departement of Dermatology, Children's University Hospital, 1, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Bessis, Didier" sort="Bessis, Didier" uniqKey="Bessis D" first="Didier" last="Bessis">Didier Bessis</name><affiliation wicri:level="1"><mods:affiliation>Département de Dermatologie, Hôpital Saint‐Éloi, CHRU de Montpellier, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Dermatologie, Hôpital Saint‐Éloi, CHRU de Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Pyeritz, Reed E" sort="Pyeritz, Reed E" uniqKey="Pyeritz R" first="Reed E." last="Pyeritz">Reed E. Pyeritz</name><affiliation wicri:level="3"><mods:affiliation>Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania, Philadelphia</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Salhi, Aicha" sort="Salhi, Aicha" uniqKey="Salhi A" first="Aicha" last="Salhi">Aicha Salhi</name><affiliation wicri:level="1"><mods:affiliation>Dermatolgie, Faculté de Médecine d'Alger, Alger, Algeria</mods:affiliation><country xml:lang="fr">Algérie</country><wicri:regionArea>Dermatolgie, Faculté de Médecine d'Alger, Alger</wicri:regionArea></affiliation></author><author><name sortKey="Tan, Oon T" sort="Tan, Oon T" uniqKey="Tan O" first="Oon T." last="Tan">Oon T. Tan</name><affiliation wicri:level="3"><mods:affiliation>Massachusetts Eye and Ear Infirmary, Harvard Medical School, Massachusetts, Boston</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName><wicri:orgArea>Massachusetts Eye and Ear Infirmary, Harvard Medical School, Massachusetts</wicri:orgArea></affiliation></author><author><name sortKey="Wargon, Orli" sort="Wargon, Orli" uniqKey="Wargon O" first="Orli" last="Wargon">Orli Wargon</name><affiliation wicri:level="1"><mods:affiliation>Department of Paediatric Dermatology, Sydney Children's Hospital: School of Women's and Children's Health University of New South Wales, New South Wales, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatric Dermatology, Sydney Children's Hospital: School of Women's and Children's Health University of New South Wales, New South Wales, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B." last="Mulliken">John B. Mulliken</name><affiliation wicri:level="3"><mods:affiliation>Department of Plastic and Oral Surgery, Children's Hospital, Harvard Medical School, Massachusetts, Boston</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName><wicri:orgArea>Department of Plastic and Oral Surgery, Children's Hospital, Harvard Medical School, Massachusetts</wicri:orgArea></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: miikka.vikkula@uclouvain.be</mods:affiliation><country wicri:rule="url">Belgique</country></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:FC7EE42BEDCCE893C1B2F7BB3F8B1329499F45A7</idno><date when="2013" year="2013">2013</date><idno type="doi">10.1002/humu.22431</idno><idno type="url">https://api.istex.fr/document/FC7EE42BEDCCE893C1B2F7BB3F8B1329499F45A7/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">002F70</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002F70</idno><idno type="wicri:Area/Istex/Curation">002F70</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main"><hi rend="italic"><hi rend="fc">RASA</hi>1</hi> Mutations and Associated Phenotypes in 68 Families with Capillary Malformation–Arteriovenous Malformation</title><author><name sortKey="Revencu, Nicole" sort="Revencu, Nicole" uniqKey="Revencu N" first="Nicole" last="Revencu">Nicole Revencu</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Boon, Laurence M" sort="Boon, Laurence M" uniqKey="Boon L" first="Laurence M." last="Boon">Laurence M. Boon</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Vascular Anomalies Centre, Division of Plastic Surgery, Cliniques universitaires St Luc, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Mendola, Antonella" sort="Mendola, Antonella" uniqKey="Mendola A" first="Antonella" last="Mendola">Antonella Mendola</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Cordisco, Maria Rosa" sort="Cordisco, Maria Rosa" uniqKey="Cordisco M" first="Maria Rosa" last="Cordisco">Maria Rosa Cordisco</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital de Pediatria Prof. Dr. J.P. Garrahan, Buenos Aires, Argentina</mods:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Department of Dermatology, Hospital de Pediatria Prof. Dr. J.P. Garrahan, Buenos Aires</wicri:regionArea></affiliation></author><author><name sortKey="Dubois, Josee" sort="Dubois, Josee" uniqKey="Dubois J" first="Josée" last="Dubois">Josée Dubois</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Imaging, Sainte‐Justine Mother‐Child University Hospital, Montreal, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Medical Imaging, Sainte‐Justine Mother‐Child University Hospital, Montreal</wicri:regionArea></affiliation></author><author><name sortKey="Clapuyt, Philippe" sort="Clapuyt, Philippe" uniqKey="Clapuyt P" first="Philippe" last="Clapuyt">Philippe Clapuyt</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Hammer, Frank" sort="Hammer, Frank" uniqKey="Hammer F" first="Frank" last="Hammer">Frank Hammer</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Department of Medical Imaging, Cliniques universitaires Saint‐Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Amor, David J" sort="Amor, David J" uniqKey="Amor D" first="David J." last="Amor">David J. Amor</name><affiliation wicri:level="1"><mods:affiliation>Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, 3052, Parkville, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Royal Children's Hospital, Victoria, 3052, Parkville</wicri:regionArea></affiliation></author><author><name sortKey="Irvine, Alan D" sort="Irvine, Alan D" uniqKey="Irvine A" first="Alan D." last="Irvine">Alan D. Irvine</name><affiliation wicri:level="1"><mods:affiliation>Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Dermatology Clinic, Our Lady's Children's Hospital Crumlin, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Baselga, Eulalia" sort="Baselga, Eulalia" uniqKey="Baselga E" first="Eulalia" last="Baselga">Eulalia Baselga</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital de la Santa Creu I Sant Pau, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Dompmartin, Anne" sort="Dompmartin, Anne" uniqKey="Dompmartin A" first="Anne" last="Dompmartin">Anne Dompmartin</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Dermatology, Université de Caen Basse Normandie, CHU Caen, Caen</wicri:regionArea></affiliation></author><author><name sortKey="Syed, Samira" sort="Syed, Samira" uniqKey="Syed S" first="Samira" last="Syed">Samira Syed</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Pediatric Dermatology, Great Ormond Street Hospital for Children, London</wicri:regionArea></affiliation></author><author><name sortKey="Martin Antiago, Ana" sort="Martin Antiago, Ana" uniqKey="Martin Antiago A" first="Ana" last="Martin-Santiago">Ana Martin-Santiago</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Son Espases University Hospital, Palma de Mallorca, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Son Espases University Hospital, Palma de Mallorca</wicri:regionArea></affiliation></author><author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Ades">Lesley Ades</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Smith, Janine" sort="Smith, Janine" uniqKey="Smith J" first="Janine" last="Smith">Janine Smith</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Sandaradura, Sarah" sort="Sandaradura, Sarah" uniqKey="Sandaradura S" first="Sarah" last="Sandaradura">Sarah Sandaradura</name><affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Barrio, Victoria R" sort="Barrio, Victoria R" uniqKey="Barrio V" first="Victoria R." last="Barrio">Victoria R. Barrio</name><affiliation wicri:level="3"><mods:affiliation>Department of Pediatrics and Dermatology at the University of California at San Diego and Rady Children's Hospital, California, San Diego</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">San Diego</settlement><region type="state">Californie</region></placeName><wicri:orgArea>Department of Pediatrics and Dermatology at the University of California at San Diego and Rady Children's Hospital, California</wicri:orgArea></affiliation></author><author><name sortKey="Burrows, Patricia E" sort="Burrows, Patricia E" uniqKey="Burrows P" first="Patricia E." last="Burrows">Patricia E. Burrows</name><affiliation wicri:level="2"><mods:affiliation>Department of Radiology, Roosevelt Hospital, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Department of Radiology, Roosevelt Hospital, New York</wicri:cityArea></affiliation></author><author><name sortKey="Blei, Francine" sort="Blei, Francine" uniqKey="Blei F" first="Francine" last="Blei">Francine Blei</name><affiliation wicri:level="2"><mods:affiliation>Vascular Birthmark Institute of New York, Roosevelt Hospital, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Vascular Birthmark Institute of New York, Roosevelt Hospital, New York</wicri:cityArea></affiliation></author><author><name sortKey="Cozzolino, Mariarosaria" sort="Cozzolino, Mariarosaria" uniqKey="Cozzolino M" first="Mariarosaria" last="Cozzolino">Mariarosaria Cozzolino</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Brunetti Ierri, Nicola" sort="Brunetti Ierri, Nicola" uniqKey="Brunetti Ierri N" first="Nicola" last="Brunetti-Pierri">Nicola Brunetti-Pierri</name><affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Federico II University of Naples, Naples, Italy</mods:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Pediatrics, Federico II University of Naples, Naples</wicri:regionArea></affiliation></author><author><name sortKey="Vicente, Asuncion" sort="Vicente, Asuncion" uniqKey="Vicente A" first="Asuncion" last="Vicente">Asuncion Vicente</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Abramowicz, Marc" sort="Abramowicz, Marc" uniqKey="Abramowicz M" first="Marc" last="Abramowicz">Marc Abramowicz</name><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Desir, Julie" sort="Desir, Julie" uniqKey="Desir J" first="Julie" last="Désir">Julie Désir</name><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Vilain, Catheline" sort="Vilain, Catheline" uniqKey="Vilain C" first="Catheline" last="Vilain">Catheline Vilain</name><affiliation wicri:level="1"><mods:affiliation>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Medical Genetics Department, Hôpital Erasme, Université Libre de Bruxelles, Brussels</wicri:regionArea></affiliation></author><author><name sortKey="Chung, Wendy K" sort="Chung, Wendy K" uniqKey="Chung W" first="Wendy K." last="Chung">Wendy K. Chung</name><affiliation wicri:level="2"><mods:affiliation>Departments of Pediatrics and Medicine, Columbia University, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Departments of Pediatrics and Medicine, Columbia University, New York</wicri:cityArea></affiliation></author><author><name sortKey="Wilson, Ashley" sort="Wilson, Ashley" uniqKey="Wilson A" first="Ashley" last="Wilson">Ashley Wilson</name><affiliation wicri:level="2"><mods:affiliation>Morgan Stanley Children's Hospital of New York, New York, New York</mods:affiliation><country xml:lang="fr">États-Unis</country><placeName><region type="state">État de New York</region></placeName><wicri:cityArea>Morgan Stanley Children's Hospital of New York, New York</wicri:cityArea></affiliation></author><author><name sortKey="Gardiner, Carol A" sort="Gardiner, Carol A" uniqKey="Gardiner C" first="Carol A." last="Gardiner">Carol A. Gardiner</name><affiliation wicri:level="1"><mods:affiliation>Clinical Genetics Service, Nottingham University Hospital, Nottingham, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Clinical Genetics Service, Nottingham University Hospital, Nottingham</wicri:regionArea></affiliation></author><author><name sortKey="Dwight, Yim" sort="Dwight, Yim" uniqKey="Dwight Y" first="Yim" last="Dwight">Yim Dwight</name><affiliation><mods:affiliation>Kaiser Permanente Medical Center, Hawaii, Honolulu</mods:affiliation><wicri:noCountry code="subField">Honolulu</wicri:noCountry></affiliation></author><author><name sortKey="Lord, David J E" sort="Lord, David J E" uniqKey="Lord D" first="David J. E." last="Lord">David J. E. Lord</name><affiliation wicri:level="1"><mods:affiliation>Vascular Birthmarks Program, Children's Hospital at Westmead, New South Wales, 2145, Westmead, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Vascular Birthmarks Program, Children's Hospital at Westmead, New South Wales, 2145, Westmead</wicri:regionArea></affiliation></author><author><name sortKey="Fishman, Leona" sort="Fishman, Leona" uniqKey="Fishman L" first="Leona" last="Fishman">Leona Fishman</name><affiliation wicri:level="1"><mods:affiliation>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Cytrynbaum, Cheryl" sort="Cytrynbaum, Cheryl" uniqKey="Cytrynbaum C" first="Cheryl" last="Cytrynbaum">Cheryl Cytrynbaum</name><affiliation wicri:level="1"><mods:affiliation>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Canada</mods:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto</wicri:regionArea></affiliation></author><author><name sortKey="Chamlin, Sarah" sort="Chamlin, Sarah" uniqKey="Chamlin S" first="Sarah" last="Chamlin">Sarah Chamlin</name><affiliation wicri:level="3"><mods:affiliation>Division of Pediatric Dermatology, Children's Memorial Hospital, Illinois, Chicago</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Chicago</settlement><region type="state">Illinois</region></placeName><wicri:orgArea>Division of Pediatric Dermatology, Children's Memorial Hospital, Illinois</wicri:orgArea></affiliation></author><author><name sortKey="Ghali, Fred" sort="Ghali, Fred" uniqKey="Ghali F" first="Fred" last="Ghali">Fred Ghali</name><affiliation><mods:affiliation>Pediatric Dermatology of North Texas, Texas, Grapevine</mods:affiliation><wicri:noCountry code="subField">Grapevine</wicri:noCountry></affiliation></author><author><name sortKey="Gilaberte, Yolanda" sort="Gilaberte, Yolanda" uniqKey="Gilaberte Y" first="Yolanda" last="Gilaberte">Yolanda Gilaberte</name><affiliation wicri:level="1"><mods:affiliation>Unit of Dermatology, Hospital San Jorge, Huesca, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Unit of Dermatology, Hospital San Jorge, Huesca</wicri:regionArea></affiliation></author><author><name sortKey="Joss, Shelagh" sort="Joss, Shelagh" uniqKey="Joss S" first="Shelagh" last="Joss">Shelagh Joss</name><affiliation wicri:level="1"><mods:affiliation>West of Scotland Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Scotland, G51 4TF, Glasgow, United Kingdom</mods:affiliation><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>West of Scotland Clinical Genetics Service, Laboratory Medicine Building, Southern General Hospital, Scotland, G51 4TF, Glasgow</wicri:regionArea></affiliation></author><author><name sortKey="Boente, Maria Del C" sort="Boente, Maria Del C" uniqKey="Boente M" first="Maria Del C." last="Boente">Maria Del C. Boente</name><affiliation wicri:level="1"><mods:affiliation>Unit of Dermatology, Hospital del Niño Jesús, Tucumán, Argentina</mods:affiliation><country xml:lang="fr">Argentine</country><wicri:regionArea>Unit of Dermatology, Hospital del Niño Jesús, Tucumán</wicri:regionArea></affiliation></author><author><name sortKey="Leaute Abreze, Christine" sort="Leaute Abreze, Christine" uniqKey="Leaute Abreze C" first="Christine" last="Léauté-Labrèze">Christine Léauté-Labrèze</name><affiliation wicri:level="1"><mods:affiliation>Centre de Référence Maladies rares de la peau, CHU de Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Centre de Référence Maladies rares de la peau, CHU de Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Delrue, Marie Nge" sort="Delrue, Marie Nge" uniqKey="Delrue M" first="Marie-Ange" last="Delrue">Marie-Ange Delrue</name><affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, CHU Bordeaux, Bordeaux, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Department of Medical Genetics, CHU Bordeaux, Bordeaux</wicri:regionArea></affiliation></author><author><name sortKey="Bayliss, Susan" sort="Bayliss, Susan" uniqKey="Bayliss S" first="Susan" last="Bayliss">Susan Bayliss</name><affiliation><mods:affiliation>Pediatric Dermatology, St. Louis Children's Hospital, Missouri, St. Louis</mods:affiliation><wicri:noCountry code="subField">Louis</wicri:noCountry></affiliation></author><author><name sortKey="Martorell, Loreto" sort="Martorell, Loreto" uniqKey="Martorell L" first="Loreto" last="Martorell">Loreto Martorell</name><affiliation wicri:level="1"><mods:affiliation>Genética Molecular, Hospital Sant Joan de Déu, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Genética Molecular, Hospital Sant Joan de Déu, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Gonzalez Nse At, Maria Ntonia" sort="Gonzalez Nse At, Maria Ntonia" uniqKey="Gonzalez Nse At M" first="Maria-Antonia" last="González-Ense At">Maria-Antonia González-Ense At</name><affiliation wicri:level="1"><mods:affiliation>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona, Spain</mods:affiliation><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Dermatology, Hospital Sant Joan de Deu, Barcelona</wicri:regionArea></affiliation></author><author><name sortKey="Mazereeuw Autier, Juliette" sort="Mazereeuw Autier, Juliette" uniqKey="Mazereeuw Autier J" first="Juliette" last="Mazereeuw-Hautier">Juliette Mazereeuw-Hautier</name><affiliation wicri:level="1"><mods:affiliation>Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Service de Dermatologie, Centre de Référence des Maladies rares de la peau, Hôpital Larrey, Toulouse</wicri:regionArea></affiliation></author><author><name sortKey="O Donnell, Brid" sort="O Donnell, Brid" uniqKey="O Donnell B" first="Brid" last="O'Donnell">Brid O'Donnell</name><affiliation wicri:level="1"><mods:affiliation>Departement of Dermatology, Children's University Hospital, 1, Dublin, Ireland</mods:affiliation><country xml:lang="fr">Irlande (pays)</country><wicri:regionArea>Departement of Dermatology, Children's University Hospital, 1, Dublin</wicri:regionArea></affiliation></author><author><name sortKey="Bessis, Didier" sort="Bessis, Didier" uniqKey="Bessis D" first="Didier" last="Bessis">Didier Bessis</name><affiliation wicri:level="1"><mods:affiliation>Département de Dermatologie, Hôpital Saint‐Éloi, CHRU de Montpellier, Montpellier, France</mods:affiliation><country xml:lang="fr">France</country><wicri:regionArea>Département de Dermatologie, Hôpital Saint‐Éloi, CHRU de Montpellier, Montpellier</wicri:regionArea></affiliation></author><author><name sortKey="Pyeritz, Reed E" sort="Pyeritz, Reed E" uniqKey="Pyeritz R" first="Reed E." last="Pyeritz">Reed E. Pyeritz</name><affiliation wicri:level="3"><mods:affiliation>Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania, Philadelphia</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Philadelphie</settlement><region type="state">Pennsylvanie</region></placeName><wicri:orgArea>Departments of Medicine and Genetics, Perelman School of Medicine at the University of Pennsylvania, Pennsylvania</wicri:orgArea></affiliation></author><author><name sortKey="Salhi, Aicha" sort="Salhi, Aicha" uniqKey="Salhi A" first="Aicha" last="Salhi">Aicha Salhi</name><affiliation wicri:level="1"><mods:affiliation>Dermatolgie, Faculté de Médecine d'Alger, Alger, Algeria</mods:affiliation><country xml:lang="fr">Algérie</country><wicri:regionArea>Dermatolgie, Faculté de Médecine d'Alger, Alger</wicri:regionArea></affiliation></author><author><name sortKey="Tan, Oon T" sort="Tan, Oon T" uniqKey="Tan O" first="Oon T." last="Tan">Oon T. Tan</name><affiliation wicri:level="3"><mods:affiliation>Massachusetts Eye and Ear Infirmary, Harvard Medical School, Massachusetts, Boston</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName><wicri:orgArea>Massachusetts Eye and Ear Infirmary, Harvard Medical School, Massachusetts</wicri:orgArea></affiliation></author><author><name sortKey="Wargon, Orli" sort="Wargon, Orli" uniqKey="Wargon O" first="Orli" last="Wargon">Orli Wargon</name><affiliation wicri:level="1"><mods:affiliation>Department of Paediatric Dermatology, Sydney Children's Hospital: School of Women's and Children's Health University of New South Wales, New South Wales, Sydney, Australia</mods:affiliation><country xml:lang="fr">Australie</country><wicri:regionArea>Department of Paediatric Dermatology, Sydney Children's Hospital: School of Women's and Children's Health University of New South Wales, New South Wales, Sydney</wicri:regionArea></affiliation></author><author><name sortKey="Mulliken, John B" sort="Mulliken, John B" uniqKey="Mulliken J" first="John B." last="Mulliken">John B. Mulliken</name><affiliation wicri:level="3"><mods:affiliation>Department of Plastic and Oral Surgery, Children's Hospital, Harvard Medical School, Massachusetts, Boston</mods:affiliation><country>États-Unis</country><placeName><settlement type="city">Boston</settlement><region type="state">Massachusetts</region></placeName><wicri:orgArea>Department of Plastic and Oral Surgery, Children's Hospital, Harvard Medical School, Massachusetts</wicri:orgArea></affiliation></author><author><name sortKey="Vikkula, Miikka" sort="Vikkula, Miikka" uniqKey="Vikkula M" first="Miikka" last="Vikkula">Miikka Vikkula</name><affiliation wicri:level="1"><mods:affiliation>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels, Belgium</mods:affiliation><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, Cliniques universitaires St Luc, Université catholique de Louvain, Brussels</wicri:regionArea></affiliation><affiliation wicri:level="1"><mods:affiliation>E-mail: miikka.vikkula@uclouvain.be</mods:affiliation><country wicri:rule="url">Belgique</country></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">34</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="1632">1632</biblScope><biblScope unit="page" to="1641">1641</biblScope><biblScope unit="page-count">10</biblScope><date type="published" when="2013-12">2013-12</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Allele</term><term>Anomaly</term><term>Capillary malformation</term><term>Clinical diagnosis</term><term>Dermatology</term><term>Dhplc</term><term>Eerola</term><term>Family history</term><term>Family members</term><term>Galen aneurysmal malformation</term><term>Genet</term><term>Genetics</term><term>Germline</term><term>Germline mutation</term><term>Germline rasa1 mutation</term><term>Halo</term><term>Hereditary</term><term>Hereditary hemorrhagic telangiectasia</term><term>Hershkovitz</term><term>Hospital sant joan</term><term>Human mutation</term><term>Index patients</term><term>Lesion</term><term>Malformation</term><term>Multifocal</term><term>Mutation</term><term>Parkes</term><term>Parkes weber lesion</term><term>Parkes weber syndrome</term><term>Pediatric dermatology</term><term>Phenotype</term><term>Phenotypic</term><term>Rasa1</term><term>Rasa1 gene</term><term>Rasa1 mutation</term><term>Rasa1 mutations</term><term>Rasa1 mutations cause</term><term>Revencu</term><term>Right foot</term><term>Silico analysis</term><term>Somatic</term><term>Syndrome</term><term>Telangiectasia</term><term>Thiex</term><term>Universite</term><term>Universite catholique</term><term>Vascular</term><term>Vascular lesions</term><term>Vascular malformation</term><term>Vascular malformations</term><term>Vikkula</term><term>Weber</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Allele</term><term>Anomaly</term><term>Capillary malformation</term><term>Clinical diagnosis</term><term>Dermatology</term><term>Dhplc</term><term>Eerola</term><term>Family history</term><term>Family members</term><term>Galen aneurysmal malformation</term><term>Genet</term><term>Genetics</term><term>Germline</term><term>Germline mutation</term><term>Germline rasa1 mutation</term><term>Halo</term><term>Hereditary</term><term>Hereditary hemorrhagic telangiectasia</term><term>Hershkovitz</term><term>Hospital sant joan</term><term>Human mutation</term><term>Index patients</term><term>Lesion</term><term>Malformation</term><term>Multifocal</term><term>Mutation</term><term>Parkes</term><term>Parkes weber lesion</term><term>Parkes weber syndrome</term><term>Pediatric dermatology</term><term>Phenotype</term><term>Phenotypic</term><term>Rasa1</term><term>Rasa1 gene</term><term>Rasa1 mutation</term><term>Rasa1 mutations</term><term>Rasa1 mutations cause</term><term>Revencu</term><term>Right foot</term><term>Silico analysis</term><term>Somatic</term><term>Syndrome</term><term>Telangiectasia</term><term>Thiex</term><term>Universite</term><term>Universite catholique</term><term>Vascular</term><term>Vascular lesions</term><term>Vascular malformation</term><term>Vascular malformations</term><term>Vikkula</term><term>Weber</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract">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.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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