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Rare pathogenic variants in WNK3 cause X-linked intellectual disability.
Küry, Sébastien; Zhang, Jinwei; Besnard, Thomas; Caro-Llopis, Alfonso; Zeng, Xue; Robert, Stephanie M; Josiah, Sunday S; Kiziltug, Emre; Denommé-Pichon, Anne-Sophie; Cogné, Benjamin; Kundishora, Adam J; Hao, Le T; Li, Hong; Stevenson, Roger E; Louie, Raymond J; Deb, Wallid; Torti, Erin; Vignard, Virginie; McWalter, Kirsty; Raymond, F Lucy; Rajabi, Farrah; Ranza, Emmanuelle; Grozeva, Detelina; Coury, Stephanie A; Blanc, Xavier; Brischoux-Boucher, Elise; Keren, Boris; Õunap, Katrin; Reinson, Karit; Ilves, Pilvi; Wentzensen, Ingrid M; Barr, Eileen E; Guihard, Solveig Heide; Charles, Perrine; Seaby, Eleanor G; Monaghan, Kristin G; Rio, Marlène; van Bever, Yolande; van Slegtenhorst, Marjon; Chung, Wendy K; Wilson, Ashley; Quinquis, Delphine; Bréhéret, Flora; Retterer, Kyle; Lindenbaum, Pierre; Scalais, Emmanuel; Rhodes, Lindsay; Stouffs, Katrien; Pereira, Elaine M; Berger, Sara M.
Affiliation
  • Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr.
  • Zhang J; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT; State Key Laboratory of Bio-Organic and Natural Products Chemis
  • Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Caro-Llopis A; Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
  • Zeng X; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.
  • Robert SM; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.
  • Josiah SS; Hatherly Laboratories, The Institute of Biomedical and Clinical Sciences, College of Medicine and Health, University of Exeter, Exeter, United Kingdom.
  • Kiziltug E; Department of Genetics, Yale School of Medicine, Yale University, New Haven, CT.
  • Denommé-Pichon AS; Département de Biochimie et Génétique, Centre Hospitalier Universitaire Angers, Angers, France; UMR CNRS 6214, INSERM 1083, Université d'Angers, Angers, France.
  • Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Kundishora AJ; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.
  • Hao LT; Department of Neurosurgery, Yale School of Medicine, Yale University, New Haven, CT.
  • Li H; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA.
  • Stevenson RE; Greenwood Genetic Center, Greenwood, SC.
  • Louie RJ; Greenwood Genetic Center, Greenwood, SC.
  • Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Torti E; GeneDx, Gaithersburg, MD.
  • Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • McWalter K; GeneDx, Gaithersburg, MD.
  • Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom.
  • Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Ranza E; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
  • Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Biomedical Campus Cambridge, Cambridge, United Kingdom; Centre for Trials Research, Cardiff University, Cardiff, United Kingdom.
  • Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.
  • Blanc X; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
  • Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Bourgogne Franche-Comté, Besançon, France.
  • Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.
  • Reinson K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.
  • Ilves P; Department of Clinical Genetics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Radiology, Tartu University Hospital, Tartu, Estonia.
  • Wentzensen IM; GeneDx, Gaithersburg, MD.
  • Barr EE; Departments of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA.
  • Guihard SH; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France; Groupe de Recherche Clinique, Déficience Intellectuelle et Autisme, Sorbonne University, Paris, France.
  • Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Seaby EG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Genomic Informatics Group, University of Southampton, Southampton, United Kingdom.
  • Monaghan KG; GeneDx, Gaithersburg, MD.
  • Rio M; Developmental Brain Disorders laboratory, INSERM UMR 1163, Imagine Institute, University of Paris, Paris, France; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Necker Enfants Malades Hospital, APHP, Paris, France.
  • van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
  • Chung WK; Departments of Pediatrics and Medicine, Columbia University Irving Medical Center, Columbia University New York, NY.
  • Wilson A; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.
  • Quinquis D; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Bréhéret F; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.
  • Retterer K; GeneDx, Gaithersburg, MD.
  • Lindenbaum P; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
  • Scalais E; Division of Pediatric Neurology, Department of Pediatrics, Centre Hospitalier de Luxembourg, Luxembourg City, Luxembourg.
  • Rhodes L; GeneDx, Gaithersburg, MD.
  • Stouffs K; Neurogenetics Research Group, Reproduction and Genetics, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Laarbeeklaan, Brussels, Belgium.
  • Pereira EM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.
  • Berger SM; Division of Clinical Genetics, Department of Pediatrics, Columbia University Vagelos College of Physicians and Surgeons and New York-Presbyterian Morgan Stanley Children's Hospital, New York, NY.
Genet Med ; 24(9): 1941-1951, 2022 09.
Article in En | MEDLINE | ID: mdl-35678782
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Symporters / Mental Retardation, X-Linked Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Serine-Threonine Kinases / Symporters / Mental Retardation, X-Linked Type of study: Prognostic_studies Limits: Humans / Male Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article