首页> American journal of human genetics> An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

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第一作者： Sanaa,Choufani

第一单位： Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.

作者： Sanaa,Choufani ^[1] ; Vanda,McNiven ^[2] ; Cheryl,Cytrynbaum ^[3] ; Maryam,Jangjoo ^[1] ; Margaret P,Adam ^[4] ; Hans T,Bjornsson ^[5] ; Jacqueline,Harris ^[6] ; David A,Dyment ^[7] ; Gail E,Graham ^[8] ; Marjan M,Nezarati ^[9] ; Ritu B,Aul ^[10] ; Claudia,Castiglioni ^[11] ; Jeroen,Breckpot ^[12] ; Koen,Devriendt ^[12] ; Helen,Stewart ^[13] ; Benito,Banos-Pinero ^[14] ; Sarju,Mehta ^[15] ; Richard,Sandford ^[15] ; Carolyn,Dunn ^[15] ; Remi,Mathevet ^[16] ; Lionel,van Maldergem ^[16] ; Juliette,Piard ^[16] ; Elise,Brischoux-Boucher ^[16] ; Antonio,Vitobello ^[17] ; Laurence,Faivre ^[18] ; Marie,Bournez ^[18] ; Frederic,Tran-Mau ^[17] ; Isabelle,Maystadt ^[19] ; Alberto,Fernández-Jaén ^[20] ; Sara,Alvarez ^[21] ; Irene Díez,García-Prieto ^[21] ; Fowzan S,Alkuraya ^[22] ; Hessa S,Alsaif ^[23] ; Zuhair,Rahbeeni ^[22] ; Karen,El-Akouri ^[24] ; Mariam,Al-Mureikhi ^[24] ; Rebecca C,Spillmann ^[25] ; Vandana,Shashi ^[25] ; Pedro A,Sanchez-Lara ^[26] ; John M,Graham ^[26] ; Amy,Roberts ^[27] ; Odelia,Chorin ^[28] ; Gilad D,Evrony ^[28] ; Minna,Kraatari-Tiri ^[29] ; Tracy,Dudding-Byth ^[30] ; Anamaria,Richardson ^[31] ; David,Hunt ^[32] ; Laura,Hamilton ^[33] ; Sarah,Dyack ^[34] ; Bryce A,Mendelsohn ^[35] ; Nicolás,Rodríguez ^[36] ; Rosario,Sánchez-Martínez ^[37] ; Jair,Tenorio-Castaño ^[38] ; Julián,Nevado ^[38] ; Pablo,Lapunzina ^[38] ; Pilar,Tirado ^[39] ; Maria-Teresa,Carminho Amaro Rodrigues ^[40] ; Lina,Quteineh ^[40] ; A Micheil,Innes ^[41] ; Antonie D,Kline ^[42] ; P Y Billie,Au ^[43] ; Rosanna,Weksberg ^[44]

作者单位： Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada. ^[1] Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada; Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, ON M5T 3L9, Canada. ^[2] Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. ^[3] Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98105, USA. ^[4] McKusick-Nathans Institute of Genetic Medicine, Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Faculty of Medicine, University of Iceland, Reykjavik 101, Iceland. ^[5] Kennedy Krieger Institute, Baltimore, MD 21205, USA. ^[6] Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 5B2, Canada. ^[7] Division of Genetics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON K1H 8L1, Canada. ^[8] Genetics Program, North York General Hospital, Toronto, ON M2K 1E1, Canada. ^[9] Mackenzie Health, Richmond Hill, ON L4C 4Z3, Canada. ^[10] Departmento de Neurologica Pediatrica, Clinica Las Condes, Santiago 7591046, Chile. ^[11] Center for Human Genetics, University Hospitals Leuven, Leuven 3000, Belgium. ^[12] Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford University Hospitals, NHS Foundation Trust, Headington, Oxford OX3 7HE, UK. ^[13] Oxford Regional Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK. ^[14] Department of Clinical Genetics, Addenbrookes Hospital, Cambridge CB2 0QQ, UK. ^[15] Centre de génétique humaine, CHU Besançon, Université de Bourgogne Franche-Comté, Besançon 25000, France. ^[16] Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; UF diagnostic génomiques et maladies rares et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France. ^[17] Inserm UMR1231 GAD, Génétique des Anomalies du Développement, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement, CHU Dijon Bourgogne - Université de Bourgogne, Dijon 21079, France; Centre de référence Anomalies du Développement et syndromes malformatifs et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon-Bourgogne, Dijon 21079, France. ^[18] Département de Génétique Clinique, Institut de Pathologie et de Génétique, Gosselies 6041, Belgium. ^[19] Department of. Pediatrics and Neurology, Hospital Universitario Quirónsalud, School of Medicine, Universidad Europea de Madrid, Madrid 28224, Spain. ^[20] Genonics and Medicine, NIMGenetics, Madrid 28108, Spain. ^[21] Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia. ^[22] Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Center of Excellence for Biomedicine, King Abdulaziz City for Science and Technology, Riyadh 12354, Saudi Arabia. ^[23] Department of Adult and Pediatric Medical Genetics, Hamad Medical Corporation, Doha 3050, Qatar; Division of Genetic and Genomic Medicine, Sidra Medicine, Doha 26999, Qatar. ^[24] Department of Pediatrics-Medical Genetics, Duke University, Durham, NC 27710, USA. ^[25] Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA. ^[26] Department of Cardiology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. ^[27] Center for Human Genetics & Genomics and, Department of Pediatrics, NYU Grossman School of Medicine, New York City, NY 10016, USA. ^[28] PEDEGO Research Unit, Medical Research Centre and Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Oulu 90220, Finland. ^[29] The University of Newcastle, Newcastle 2308, Australia. ^[30] Faculty of Medicine, Department of Pediatrics, BC Children's Hospital and the University of British Columbia, Vancouver, BC V6H 3N1, Canada. ^[31] Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK; Human Development and Health, Faculty of Medicine, University of Southampton, Southampton, UK. ^[32] Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK. ^[33] Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, NS B3K 6R8, Canada. ^[34] Department of Medical Genetics, Kaiser Permanente Oakland, 3505 Broadway, Oakland, CA 94611, USA. ^[35] Pediatrician Department, Hospital General Universitario de Alicante Dr. Balmis, Pintor Baeza, 11, 03010 Alicante, Spain. ^[36] Internal Medicine Department, Hospital General Universitario de Alicante Dr. Balmis, Institute for Health and Biomedical Research of Alicante, Pintor Baeza, 11, 03010 Alicante, Spain. ^[37] CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid 28042, Spain; INGEMM-Idipaz, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid 28046 Spain; ITHACA, European Reference Network, Brussels 1000, Belgium. ^[38] Neuropediatrics Service, La Paz University Hospital, Madrid 28046, Spain. ^[39] Department of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland. ^[40] Alberta Children's Hospital Research Institute for Child and Maternal Health, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada. ^[41] Harvey Institute for Human Genetics, Greater Baltimore Medical Center, Baltimore, MD 21204, USA. ^[42] Alberta Children's Hospital Research Institute for Child and Maternal Health, Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 4N1, Canada. Electronic address: billie.au@albertahealthservices.ca. ^[43] Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca. ^[44]

关键词 Au-Kline syndrome DNA methylation signature HNRNPK Kabuki syndrome Okamoto syndrome RNA processing gene epigenetics episignature neurodevelopmental disorder