Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

Autor: Felicitas Lacbawan, Barbara K. Burton, Mary E. Norton, Erika K. Smith, Maximilian Muenke, Thomas L. Winder, Art Grix, Erich Roessler, Benjamin D. Solomon, Kelly A. Bear, Harald Gaspar, Mauricio R. Delgado, Karen Brookhyser, Ute Hehr, Ntombenhle Louisa Bhengu, Howard M. Saal, Véronique David, Daniel E. Pineda-Alvarez, Amelia A. Keaton, Nancy J. Clegg, Aimee D C Paulussen, Stavit A. Shalev, M. Anne Spence, Elizabeth Thompson, Erin E. Kanetzke, Arthur S. Aylsworth, Carlos Eduardo Steiner, Dafne Horovitz, Holly H. Ardinger, Ellen Sowry, Christèle Dubourg, Adrian Wyllie, Sylvie Odent, Joan Z. Balog, Donald W. Hadley, Dorit Lev, Sandra Mercier, Stephen R. Braddock, Sherri J. Bale, Nan Zhou, Adele Schneider, G B Schaefer, Hülya Kayserili, Sarah M. Nikkel, Richard C. Roberts
Přispěvatelé: MUMC+: DA KG Lab Centraal Lab (9), Genetica & Celbiologie, RS: CARIM School for Cardiovascular Diseases, RS: GROW - School for Oncology and Reproduction, Cancer Genetics Branch, National Institute of Health (NIH)-National Human Genome Research Institute (NHGRI), Department of Pediatrics, Walter Reed National Military Medical Center, Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Service de génétique clinique [Rennes], Université de Rennes (UR)-CHU Pontchaillou [Rennes]-hôpital Sud, Department of Human Genetics, Universität Regensburg (UR)-Center for Human Genetics, Department of Clinical Genetics, Academic Hospital Maastricht, Department of Neurology, University of Texas Southwestern Medical Center [Dallas]-Texas Scottish Rite Hospital for Children, GeneDx [Gaithersburg, MD, USA], Molecular Genetics Pathology, Pathology and Laboratory Medicine Institute, Children's Mercy Hospital [Kansas City], University of North Carolina [Chapel Hill] (UNC), University of North Carolina System (UNC)-University of North Carolina System (UNC), Corner Hospital and De Korte, Saint Louis University, Genetics Department, Kaiser Permanente, Northwestern University Feinberg School of Medicine, Division of Genetics, Birth Defects and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Human Genetics Institute, Heidelberg University, Centro de Genética Médica [Rio de Janeiro], Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira [Rio de Janeiro] (IFF), Fundação Oswaldo Cruz (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Fundação Oswaldo Cruz (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Department of Medical Genetics, Istanbul University, Institute of Medical Genetics, Wolfson Medical Center, Department of Genetics, Children's Hospital of Eastern Ontario, Department of Obstetrics and Gynecology [Stanford], Stanford Medicine, Stanford University-Stanford University, Genetics and Prenatal Diagnostic Center, Cincinnati Children's Hospital Medical Center, Division of Medical Genetics, University of Arkansas for Medical Sciences (UAMS), Genetics Division, Einstein Medical Center, Children's Hospital of Pittsburgh, University of California [Irvine] (UC Irvine), University of California (UC)-University of California (UC), Genetics Institute, Emek Medical Center, Rappaport faculty of Medicine, Technion - Israel Institute of Technology [Haifa], Universidade Estadual de Campinas = University of Campinas (UNICAMP), Clinical Genetics Unit, University of Adelaide-Women's and Children's Hospital, Prevention Genetics, De Villemeur, Hervé, Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-CHU Pontchaillou [Rennes]-hôpital Sud, Children's Mercy Hospitals and Clinics, University of California [Irvine] (UCI), University of California-University of California, Universidade Estadual de Campinas (UNICAMP), Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Fundação Oswaldo Cruz / Oswaldo Cruz Foundation (FIOCRUZ), Women's and Children's Hospital-University of Adelaide
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Zdroj: Journal of Medical Genetics, 49(7), 473-479. BMJ Publishing Group
Journal of Medical Genetics
Journal of Medical Genetics, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
Journal of Medical Genetics, BMJ Publishing Group, 2012, 49 (7), pp.473-9. ⟨10.1136/jmedgenet-2012-101008⟩
ISSN: 0022-2593
1468-6244
DOI: 10.1136/jmedgenet-2012-101008⟩
Popis: Background Holoprosencephaly (HPE), the most common malformation of the human forebrain, may result from mutations in over 12 genes. Sonic Hedgehog (SHH) was the first such gene discovered; mutations in SHH remain the most common cause of nonchromosomal HPE. The severity spectrum is wide, ranging from incompatibility with extrauterine life to isolated midline facial differences. Objective To characterise genetic and clinical findings in individuals with SHH mutations. Methods Through the National Institutes of Health and collaborating centres, DNA from approximately 2000 individuals with HPE spectrum disorders were analysed for SHH variations. Clinical details were examined and combined with published cases. Results This study describes 396 individuals, representing 157 unrelated kindreds, with SHH mutations; 141 (36%) have not been previously reported. SHH mutations more commonly resulted in non-HPE (64%) than frank HPE (36%), and non-HPE was significantly more common in patients with SHH than in those with mutations in the other common HPE related genes (p
Databáze: OpenAIRE
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