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Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature.
Rots, Dmitrijs; Chater-Diehl, Eric; Dingemans, Alexander J M; Goodman, Sarah J; Siu, Michelle T; Cytrynbaum, Cheryl; Choufani, Sanaa; Hoang, Ny; Walker, Susan; Awamleh, Zain; Charkow, Joshua; Meyn, Stephen; Pfundt, Rolph; Rinne, Tuula; Gardeitchik, Thatjana; de Vries, Bert B A; Deden, A Chantal; Leenders, Erika; Kwint, Michael; Stumpel, Constance T R M; Stevens, Servi J C; Vermeulen, Jeroen R; van Harssel, Jeske V T; Bosch, Danielle G M; van Gassen, Koen L I; van Binsbergen, Ellen; de Geus, Christa M; Brackel, Hein; Hempel, Maja; Lessel, Davor; Denecke, Jonas; Slavotinek, Anne; Strober, Jonathan; Crunk, Amy; Folk, Leandra; Wentzensen, Ingrid M; Yang, Hui; Zou, Fanggeng; Millan, Francisca; Person, Richard; Xie, Yili; Liu, Shuxi; Ousager, Lilian B; Larsen, Martin; Schultz-Rogers, Laura; Morava, Eva; Klee, Eric W; Berry, Ian R; Campbell, Jennifer; Lindstrom, Kristin.
Afiliação
  • Rots D; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.
  • Chater-Diehl E; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Dingemans AJM; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.
  • Goodman SJ; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Siu MT; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Cytrynbaum C; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada
  • Choufani S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Hoang N; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada; Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 1A1, Canada; Department of Genetic Counselling, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
  • Walker S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Awamleh Z; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Charkow J; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Meyn S; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, ON M5G 0A4, Canada.
  • Pfundt R; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Rinne T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Gardeitchik T; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • de Vries BBA; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 GL Nijmegen, the Netherlands.
  • Deden AC; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Leenders E; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Kwint M; Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands.
  • Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology and Developmental Biology, Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.
  • Stevens SJC; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.
  • Vermeulen JR; Maastricht University Medical Center, 6229 HX Maastricht, the Netherlands.
  • van Harssel JVT; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.
  • Bosch DGM; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.
  • van Gassen KLI; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.
  • van Binsbergen E; Department of Genetics, University Medical Center 3584 CX Utrecht, Utrecht, the Netherlands.
  • de Geus CM; University of Groningen, University Medical Center Groningen, 9713 GZ Groningen, the Netherlands.
  • Brackel H; Catharina Hospital, 5623 EJ Eindhoven, the Netherlands.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
  • Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
  • Denecke J; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20251 Hamburg, Germany.
  • Slavotinek A; Division of Genetics, Department of Pediatrics, UCSF, San Francisco, CA 94143, USA.
  • Strober J; Division of Child Neurology, Department of Neurology & Pediatrics, UCSF, San Francisco, CA 94143, USA.
  • Crunk A; GeneDx, Gaithersburg, MD 20877, USA.
  • Folk L; GeneDx, Gaithersburg, MD 20877, USA.
  • Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA.
  • Yang H; GeneDx, Gaithersburg, MD 20877, USA.
  • Zou F; GeneDx, Gaithersburg, MD 20877, USA.
  • Millan F; GeneDx, Gaithersburg, MD 20877, USA.
  • Person R; GeneDx, Gaithersburg, MD 20877, USA.
  • Xie Y; GeneDx, Gaithersburg, MD 20877, USA.
  • Liu S; GeneDx, Gaithersburg, MD 20877, USA.
  • Ousager LB; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark.
  • Larsen M; Department of Clinical Genetics, Odense University Hospital, 5000 Odense, Denmark; Department of Clinical Research, Clinical Genetics, University of Southern Denmark, 5230 Odense, Denmark.
  • Schultz-Rogers L; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.
  • Klee EW; Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55902, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55902, USA.
  • Berry IR; Yorkshire and North East Genomic Laboratory Hub Central Laboratory, Leeds LS1 3EX, UK.
  • Campbell J; Department of Clinical Genetics, Chapel Allerton Hospital, Leeds LS7 4SA, UK.
  • Lindstrom K; Phoenix Children's Hospital, Phoenix, AZ 85016 USA.
Am J Hum Genet ; 108(6): 1053-1068, 2021 06 03.
Article em En | MEDLINE | ID: mdl-33909990
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades Múltiplas / Adenosina Trifosfatases / Anormalidades Craniofaciais / Metilação de DNA / Epigênese Genética / Transtornos do Neurodesenvolvimento / Transtornos do Crescimento / Comunicação Interventricular / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Anormalidades Múltiplas / Adenosina Trifosfatases / Anormalidades Craniofaciais / Metilação de DNA / Epigênese Genética / Transtornos do Neurodesenvolvimento / Transtornos do Crescimento / Comunicação Interventricular / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Male / Newborn Idioma: En Ano de publicação: 2021 Tipo de documento: Article