A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Autor: Calì E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Rocca C; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Sahin Y; Department of Medical Genetics, Genoks Genetic Laboratory, Ankara, Turkey., Al Shamsi A; Tawam Hospital, Al Ain, United Arab Emirates., El Chehadeh S; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence des Déficiences Intellectuelles de Causes Rares, Centre de Recherche en Biomédecine de Strasbourg (CRBS), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Chaabouni M; LGC genetics, Centre Medical les Jasmins, Tunis, Tunisia., Mankad K; Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom., Galanaki E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Sudhakar S; Department of Radiology, Great Ormond Street Hospital for Children, London, United Kingdom., Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Çelik T; Department of Pediatric Neurology, Private Practice, Adana, Turkey., Narlı N; Division of Neonatology, Department of Pediatrics, Medical School, Cukurova University, Adana, Turkey., Bianca S; Medical Genetics, Referral Centre for Rare Genetic Diseases, ARNAS Garibaldi, Catania, Italy., Murphy D; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy., De Carvalho Moreira FM; Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, United Kingdom., Andrea Accogli; Division of Medical Genetics, Department of Specialized Medicine, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Monastiri K; Department of Neonatology, Fattouma Bourguiba Hospital, Monastir, Tunisia., Edizadeh M; Department of Medical Genetics, Genoks Genetic Laboratory, Ankara, Turkey., Nardello R; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialities 'G. D'Alessandro,' University of Palermo, Palermo, Italy., Ognibene M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., De Marco P; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Ruggieri M; Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, AOU 'Policlinico,' University of Catania, Catania, Italy., Zara F; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Striano P; 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,' Genova, Italy., Şahin Y; Department of Medical Genetics, Biruni University, İstanbul, Turkey., Al-Gazali L; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain, United Arab Emirates., Abi Warde MT; Pediatric Neurology Department, CHU Strasbourg, Strasbourg, France., Gerard B; Laboratoires de Diagnostic Génétique, Unité de Génétique Moléculaire, Nouvel Hôpital Civil, Strasbourg Cedex, France., Zifarelli G; CENTOGENE AG, Rostock, Germany., Beetz C; CENTOGENE AG, Rostock, Germany., Fortuna S; Department of Chemical and Pharmaceutical Sciences, University of Trieste, Trieste, Italy., Soler M; CONCEPT Lab, Italian Institute of Technology (IIT), Genova, Italy., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Varshney G; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Salpietro V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address: v.salpietro@ucl.ac.uk., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2194-2203. Date of Electronic Publication: 2022 Aug 24.