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KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.

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Title: KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.
Authors: Awamleh Z; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Chen A; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Rots D; Clinical genetics department, Erasmus MC, Rotterdam, The Netherlands., Ko JM; Department of Pediatrics, Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea., Armour CM; Regional Genetics Program, Children's Hospital of Eastern Ontario, and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada., Nowaczyk MJM; Division of Clinical and Metabolic Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Gibson WT; Department of Medical Genetics, University of British Columbia, and BC Children's Hospital Research Institute, Vancouver, British Columbia., Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway., Soliani L; IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy., McNiven V; Division of Clinical and Metabolic Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Alkhunaizi E; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada., Invernizzi F; Medical Genetics and Neurogenetics Unit, Movement Disorders Diagnostic Section, Fondazione Irccs Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Fernandes S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal; Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal., Sousa S; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal., Amoros I; Department of Pediatrics, Hospital Punta De Europa, Algeciras, Spain., Scherer SW; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Ontario, Canada., Kwint M; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands., Bienvenu T; Université Paris Cité, Institut of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Equipe Gorwood/Ramoz, 75014, Paris, France., Garavaglia BM; Medical Genetics and Neurogenetics Unit, Movement Disorders Diagnostic Section, Fondazione Irccs Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Weksberg R; 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.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jun 19, pp. 102636. Date of Electronic Publication: 2026 Jun 19.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
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  Data: KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Awamleh+Z%22">Awamleh Z</searchLink>; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Chen+A%22">Chen A</searchLink>; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Choufani+S%22">Choufani S</searchLink>; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Rots+D%22">Rots D</searchLink>; Clinical genetics department, Erasmus MC, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Ko+JM%22">Ko JM</searchLink>; Department of Pediatrics, Rare Disease Center, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.<br /><searchLink fieldCode="AU" term="%22Armour+CM%22">Armour CM</searchLink>; Regional Genetics Program, Children's Hospital of Eastern Ontario, and Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Nowaczyk+MJM%22">Nowaczyk MJM</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Hurst+ACE%22">Hurst ACE</searchLink>; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.<br /><searchLink fieldCode="AU" term="%22Gibson+WT%22">Gibson WT</searchLink>; Department of Medical Genetics, University of British Columbia, and BC Children's Hospital Research Institute, Vancouver, British Columbia.<br /><searchLink fieldCode="AU" term="%22Misceo+D%22">Misceo D</searchLink>; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Frengen+E%22">Frengen E</searchLink>; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Strømme+P%22">Strømme P</searchLink>; Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Soliani+L%22">Soliani L</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, U.O.C. Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22McNiven+V%22">McNiven V</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Alkhunaizi+E%22">Alkhunaizi E</searchLink>; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada.<br /><searchLink fieldCode="AU" term="%22Invernizzi+F%22">Invernizzi F</searchLink>; Medical Genetics and Neurogenetics Unit, Movement Disorders Diagnostic Section, Fondazione Irccs Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Fernandes+S%22">Fernandes S</searchLink>; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal; Familial Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil, Lisboa, Portugal.<br /><searchLink fieldCode="AU" term="%22Sousa+S%22">Sousa S</searchLink>; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, EPE, Coimbra, Portugal.<br /><searchLink fieldCode="AU" term="%22Amoros+I%22">Amoros I</searchLink>; Department of Pediatrics, Hospital Punta De Europa, Algeciras, Spain.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Kwint+M%22">Kwint M</searchLink>; Department of Human Genetics, Radboud university medical center, Donders Institute for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bienvenu+T%22">Bienvenu T</searchLink>; Université Paris Cité, Institut of Psychiatry and Neuroscience of Paris (IPNP), INSERM U1266, Equipe Gorwood/Ramoz, 75014, Paris, France.<br /><searchLink fieldCode="AU" term="%22Garavaglia+BM%22">Garavaglia BM</searchLink>; Medical Genetics and Neurogenetics Unit, Movement Disorders Diagnostic Section, Fondazione Irccs Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Ortigoza-Escobar+JD%22">Ortigoza-Escobar JD</searchLink>; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Weksberg+R%22">Weksberg R</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229815831%22">Genetics in medicine : official journal of the American College of Medical Genetics</searchLink> [Genet Med] 2026 Jun 19, pp. 102636. <i>Date of Electronic Publication: </i>2026 Jun 19.
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