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Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Wieczorek, Dagmar; Newman, William G; Wieland, Thomas; Berulava, Tea; Kaffe, Maria; Falkenstein, Daniela; Beetz, Christian; Graf, Elisabeth; Schwarzmayr, Thomas; Douzgou, Sofia; Clayton-Smith, Jill; Daly, Sarah B; Williams, Simon G; Bhaskar, Sanjeev S; Urquhart, Jill E; Anderson, Beverley; O'Sullivan, James; Boute, Odile; Gundlach, Jasmin; Czeschik, Johanna Christina; van Essen, Anthonie J; Hazan, Filiz; Park, Sarah; Hing, Anne; Kuechler, Alma; Lohmann, Dietmar R; Ludwig, Kerstin U; Mangold, Elisabeth; Steenpaß, Laura; Zeschnigk, Michael; Lemke, Johannes R; Lourenco, Charles Marques; Hehr, Ute; Prott, Eva-Christina; Waldenberger, Melanie; Böhmer, Anne C; Horsthemke, Bernhard; O'Keefe, Raymond T; Meitinger, Thomas; Burn, John; Lüdecke, Hermann-Josef; Strom, Tim M.
  • Wieczorek D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany. Electronic address: dagmar.wieczorek@uni-due.de.
  • Newman WG; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Wieland T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Berulava T; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Kaffe M; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Department of Neurology and Clinical Neurophysiology, Center for Parkinson's Disease and Movement Disorders, Schön Klinik München Schwabing, 80804 Munich, Germany.
  • Falkenstein D; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Beetz C; Institute for Clinical Chemistry and Laboratory Diagnostics, University Hospital Jena, 07747 Jena, Germany.
  • Graf E; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Schwarzmayr T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Douzgou S; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Clayton-Smith J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Daly SB; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Williams SG; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Bhaskar SS; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Urquhart JE; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Anderson B; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • O'Sullivan J; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester and Central Manchester University Hospitals NHS Foundation Trust as part of the Manchester Academic Health Science Centre, Manchester M13 9WL, UK.
  • Boute O; Centre de Génétique, Centre Hospitalier Universitaire de Lille, Lille 59037, France.
  • Gundlach J; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Czeschik JC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • van Essen AJ; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 Groningen, the Netherlands.
  • Hazan F; Department of Medical Genetics, Dr. Behcet Uz Children's Hospital, Izmir 35210, Turkey.
  • Park S; Craniofacial Center, Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Hing A; Seattle Children's Hospital, Seattle, WA 98105, USA.
  • Kuechler A; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Lohmann DR; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Ludwig KU; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, 53127 Bonn, Germany.
  • Mangold E; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany.
  • Steenpaß L; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Zeschnigk M; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Lemke JR; Institut für Humangenetik, Universitätsklinikum Leipzig, 04103 Leipzig, Germany; Universitätsklinik für Kinderheilkunde, Abteilung Humangenetik, Inselspital Bern, Bern 3010, Switzerland.
  • Lourenco CM; Neurogenetics Unit, Clinics Hospital of Ribeirao Preto, University of Sao Paulo, Sao Paulo 14048900, Brazil.
  • Hehr U; Center for and Department of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
  • Prott EC; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany; Institut für Praenatale Medizin & Humangenetik, 42103 Wuppertal, Germany.
  • Waldenberger M; Research Unit of Molecular Epidemiology and Institute of Epidemiology II, Helmholtz Zentrum München 85764 Neuherberg, Germany.
  • Böhmer AC; Institute of Human Genetics, University of Bonn, 53127 Bonn, Germany; Department of Genomics, Life and Brain Center, University of Bonn, 53127 Bonn, Germany.
  • Horsthemke B; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • O'Keefe RT; Faculty of Life Sciences, The University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK.
  • Meitinger T; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Burn J; Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
  • Lüdecke HJ; Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, 45122 Essen, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institut für Praenatale Medizin & Humangenetik, 42103 Wuppertal, Germany.
Am J Hum Genet ; 95(6): 698-707, 2014 Dec 04.
Article en En | MEDLINE | ID: mdl-25434003
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atresia de las Coanas / Regiones Promotoras Genéticas / Empalmosomas / Ribonucleoproteína Nuclear Pequeña U5 / Eliminación de Gen / Sordera / Cardiopatías Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Atresia de las Coanas / Regiones Promotoras Genéticas / Empalmosomas / Ribonucleoproteína Nuclear Pequeña U5 / Eliminación de Gen / Sordera / Cardiopatías Congénitas Tipo de estudio: Diagnostic_studies / Etiology_studies / Prognostic_studies Límite: Child, preschool / Female / Humans / Male Idioma: En Año: 2014 Tipo del documento: Article