De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

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Bibliographic Details
Title: De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.
Authors: Sleyp Y; Department of Human Genetics, KU Leuven, Leuven, Belgium., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Accogli A; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Ballon K; Centre for Developmental Disabilities, University Hospitals Leuven, Leuven, Belgium., Ben-Zeev B; Pediatric Neurology Institute, The Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Broly M; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Callaerts P; Department of Human Genetics, KU Leuven, Leuven, Belgium., Caylor RC; Greenwood Genetic Center, Greenwood, SC., Charles P; Salpêtrière Hospital Genetic Department and Reference Center for Rare Intellectual Disabilities, APHP, Paris, France., Chatron N; Department of Medical Genetics, Hospices Civils de Lyon and NeuroMyogene Institute, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Cohen L; Genetic Institute, Barzilai University Medical Center, Ashkelon, Israel; Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba, Israel., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Cuccurullo C; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Cuscó I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Janette diMonda; Department of Human Genetics, Emory Clinic, Emory Healthcare, Atlanta, GA., Duran-Romaña R; Switch Laboratory, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Ekhilevitch N; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Fernández-Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Imagine, Université de Paris, Paris, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France., Keren B; Département de Génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon and NeuroMyogene Institute, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Maljaars J; Parenting and Special Education Research Unit, KU Leuven, Leuven, Belgium., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada., Morrow MM; GeneDx, Inc, Gaithersburg, MD., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Rousseau F; Switch Laboratory, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Victoria, Australia; Florey and Murdoch Children's Research Institutes, Melbourne, Victoria, Australia., Schnur RE; GeneDx, Inc, Gaithersburg, MD., Schymkowitz J; Switch Laboratory, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Souche E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Steyaert J; Center for Developmental Psychiatry, KU Leuven, Leuven, Belgium., Stolerman ES; Greenwood Genetic Center, Greenwood, SC., Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA., Ville D; Pediatric Neurology Department, Lyon University Hospital, Lyon, France., Washington C; Greenwood Genetic Center, Greenwood, SC., Weiss K; Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Zaid R; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Peeters H; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium. Electronic address: hilde.peeters@uzleuven.be.
Corporate Authors: University of Washington Center for Mendelian Genomics
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2464-2474. Date of Electronic Publication: 2022 Oct 11.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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
Database: MEDLINE Ultimate
Description
ISSN:1530-0366
DOI:10.1016/j.gim.2022.08.020