A novel missense mutation in ISCA2 causes aberrant splicing and leads to multiple mitochondrial dysfunctions syndrome 4.

Autor: Al-Hassnan, Zuhair, AlDosary, Mazhor, AlHargan, Aljouhra, AlQudairy, Hanan, Almass, Rawan, Alahmadi, Khaled Omar, AlShahrani, Saif, AlBakheet, Albandary, Almuhaizea, Mohammad A., Taylor, Robert W., Colak, Dilek, Kaya, Namik

Publikováno v: Frontiers in Psychiatry; 2024, p1-10, 10p

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Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder.

Autor: Medico Salsench E; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Deng R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Lanko K; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Nikoncuk A; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Pérez B; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain., Sánchez-Lijarcio O; Centro de Diagnóstico de Enfermedades Moleculares. Centro de Biología Molecular, Universidad Autonoma de Madrid, CIBER Enfermedades Raras, IdiPAZ, Madrid, Spain., Ibáñez-Mico S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, Murcia, Spain., Wojcik A; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA., Vargas M; Gillette Children's Specialty Healthcare, St. Paul, MN 55101, USA., Abbas Al-Sannaa N; John Hopkins Aramco Health Care, Pediatric Services, Dhahran, Saudi Arabia., Girgis MY; Pediatric Department, Children's Hospital, Cairo University, Cairo, Egypt., Silveira TRD; CENTOGENE, GmbH, 18055 Rostock, Germany., Bauer P; CENTOGENE, GmbH, 18055 Rostock, Germany., Schroeder A; Division of Medical Genetics, University of Rochester Medical Center, Rochester, NY 14642, USA., Fong CT; Departments of Pediatrics and of Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Najarzadeh Torbati P; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, UK., Cali E; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Kaya IH; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia., AlMuhaizea M; College of Medicine, AlFaisal University, Riyadh, Kingdom of Saudi Arabia.; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Kingdom of Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Cardona-Londoño KJ; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia., Arold ST; King Abdullah University of Science and Technology (KAUST), Computational Bioscience Research Center (CBRC), Division of Biological and Environmental Sciences and Engineering (BESE), Thuwal 23955-6900, Saudi Arabia.; Centre de Biologie Structurale, CNRS, INSERM, Université de Montpellier, 34090 Montpellier, France., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Bertoli-Avella A; CENTOGENE, GmbH, 18055 Rostock, Germany., Kaya N; Department of Translational Genomics, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Kingdom of Saudi Arabia., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.

Publikováno v: Brain : a journal of neurology [Brain] 2021 Nov 29; Vol. 144 (10), pp. e85.