ArticleAmerican journal of human genetics2021
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
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Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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22 citing papers in PubMed, 30 citations in OpenAlex.
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Authors and funding
42 authors at 20 institutions in 9 countries.
Zheng Yie YapAging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Stephanie EfthymiouDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Simone SeiffertDepartment of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
Karen Vargas ParraAging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Sukyeong LeeVerna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Alessia NascaUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
Reza MaroofianDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
Manuela PendziwiatInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
Sunhee JungDepartment of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
Elizabeth BhojDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Pasquale StrianoDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16124 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto "Giannina Gaslini," Genoa 16123, Italy.
Kshitij MankadNeuroradiology Unit, Great Ormond Street Hospital for Children, London WC1N3JH, UK.
Barbara VonaDepartment of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, 72076 Tübingen, Germany.
Sanmati CuddapahDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.
Anja WagnerDepartment of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, 3000 Rotterdam, the Netherlands.
Javeria Raza AlviDepartment of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore 54600, Pakistan.
Elham Davoudi-DehaghaniDepartment of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran.
Mohammad-Sadegh FallahDepartment of Medical Genetics, Kawsar Human Genetics Research Center, Tehran 15956-45513, Iran.
Srinitya GannavarapuDepartment of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada.
Costanza LampertiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
Andrea LegatiUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
Bibi Nazia MurtazaDepartment of Zoology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan.
Muhammad Shahid NadeemDepartment of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Mujaddad Ur RehmanDepartment of Microbiology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan.
Kolsoum SaeidiNeuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman 7616914115, Iran.
Vincenzo SalpietroDepartment of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16124 Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS, Istituto "Giannina Gaslini," Genoa 16123, Italy.
Sarah von SpiczakInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany; DRK-Northern German Epilepsy Centre for Children and Adolescents, 24223 Schwentinental-Raisdorf, Germany.
Abigail SandovalAging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
Sirous ZeinaliDepartment of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran.
Massimo ZevianiDepartment of Neurosciences, University of Padova, via Giustiniani 2, Padova 35128, Italy.
Adi ReichGeneDx, Gaithersburg, MD 20877, USA.
SYNaPS Study GroupDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
University of Washington Center for Mendelian GenomicsUniversity of Washington, Seattle, WA 98195, USA.
Cholsoon JangDepartment of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
Ingo HelbigInstitute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; The Epilepsy NeuroGenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA 19104, USA.
Tahsin Stefan BarakatDepartment of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands.
Daniele GhezziUnit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy; Department of Pathophysiology and Transplantation, University of Milan, 20122 Milan, Italy.
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA; Taub Institute for Alzheimer Disease and the Aging Brain, Columbia University Medical Center, New York, NY 10032, USA.
Yvonne WeberDepartment of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany; Department of Epileptology and Neurology, University of Aachen, Aachen 52074, Germany.
Henry HouldenDepartment of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Wan Hee YoonAging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. Electronic address: wanhee-yoon@omrf.org.
Oklahoma Medical Research Foundation · USChildren's Hospital of Philadelphia · USFondazione IRCCS Istituto Neurologico Carlo Besta · ITNational Hospital for Neurology and Neurosurgery · GBAbbottabad University of Science and Technology · PKChristian-Albrechts-Universität zu Kiel · DEColumbia University Irving Medical Center · USErasmus MC · NLHertie Institute for Clinical Brain Research · DEIstituto Giannina Gaslini · ITPasteur Institute of Iran · IRUniversity of California, Irvine · USBaylor College of Medicine · USGreat Ormond Street Hospital · GBKerman University of Medical Sciences · IRKing Abdulaziz University · SAUniversity of Milan · ITUniversity of Padua · ITUniversity of Tübingen · DEWestern University · CA
Funding
Understanding connective tissue development and disease with PDGFR-driven..... P20GM103636 · NIGMS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI THOMPSON, LINDA F · 2013 to 2023
$26.9MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MRole of ATAD3A in Lysosomal Homeostasis and NeurogenesisR01NS121298 · NINDS · OKLAHOMA MEDICAL RESEARCH FOUNDATION · PI YOON, WAN HEE · 2021 to 2025
$2.2MDepartment of HealthMedical Research Council G0601943Medical Research Council MC_UP_1002/1Medical Research Council MR/S005021/1Medical Research Council MR/S01165X/1MRF_ MRF-155-0002-RG-ZEVIAMRF_ MRF-175-0001-RG-ZEVI-C0898NHGRI NIH HHS UM1 HG006493NIGMS NIH HHS P20 GM103636NINDS NIH HHS R01 NS121298Wellcome TrustWellcome Trust WT093205 MAWellcome Trust WT104033AIA
Abstract
The 2-oxoglutarate dehydrogenase-like (OGDHL) protein is a rate-limiting enzyme in the Krebs cycle that plays a pivotal role in mitochondrial metabolism. OGDHL expression is restricted mainly to the brain in humans. Here, we report nine individuals from eight unrelated families carrying bi-allelic variants in OGDHL with a range of neurological and neurodevelopmental phenotypes including epilepsy, hearing loss, visual impairment, gait ataxia, microcephaly, and hypoplastic corpus callosum. The variants include three homozygous missense variants (p.Pro852Ala, p.Arg244Trp, and p.Arg299Gly), three compound heterozygous single-nucleotide variants (p.Arg673Gln/p.Val488Val, p.Phe734Ser/p.Ala327Val, and p.Trp220Cys/p.Asp491Val), one homozygous frameshift variant (p.Cys553Leufs
Indexed as
MutationAllelesAnimalsAtaxiaCells, CulturedChildCohort StudiesDNA Mutational AnalysisDrosophila melanogasterEpilepsyFamily HealthFemaleFibroblastsHearing LossHumansKetoglutarate Dehydrogenase ComplexKetoglutarate Dehydrogenase ComplexOGDHL protein, humanbi-allelicCRISPR-Cas9 gene editingDEEdevelopmental and epileptic encephalopathyDrosophilaexome sequencingmitochondrianeurodevelopmental diseaseOGDHLα-ketoglutarate
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