换一批Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
第一作者：
Zheng Yie,Yap
第一单位：
Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
作者：
Zheng Yie,Yap [1]
;
Stephanie,Efthymiou [2]
;
Simone,Seiffert [3]
;
Karen,Vargas Parra [1]
;
Sukyeong,Lee [4]
;
Alessia,Nasca [5]
;
Reza,Maroofian [2]
;
Isabelle,Schrauwen [6]
;
Manuela,Pendziwiat [7]
;
Sunhee,Jung [8]
;
Elizabeth,Bhoj [9]
;
Pasquale,Striano [10]
;
Kshitij,Mankad [11]
;
Barbara,Vona [12]
;
Sanmati,Cuddapah [9]
;
Anja,Wagner [13]
;
Javeria Raza,Alvi [14]
;
Elham,Davoudi-Dehaghani [15]
;
Mohammad-Sadegh,Fallah [16]
;
Srinitya,Gannavarapu [17]
;
Costanza,Lamperti [5]
;
Andrea,Legati [5]
;
Bibi Nazia,Murtaza [18]
;
Muhammad Shahid,Nadeem [19]
;
Mujaddad Ur,Rehman [20]
;
Kolsoum,Saeidi [21]
;
Vincenzo,Salpietro [10]
;
Sarah,von Spiczak [22]
;
Abigail,Sandoval [1]
;
Sirous,Zeinali [15]
;
Massimo,Zeviani [23]
;
Adi,Reich [24]
;
SYNaPS Study Group [2]
;
University of Washington Center for Mendelian Genomics [25]
;
Cholsoon,Jang [8]
;
Ingo,Helbig [26]
;
Tahsin Stefan,Barakat [27]
;
Daniele,Ghezzi [28]
;
Suzanne M,Leal [29]
;
Yvonne,Weber [30]
;
Henry,Houlden [2]
;
Wan Hee,Yoon [31]
作者单位：
Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.
[1]
Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
[2]
Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen 72076, Germany.
[3]
Verna and Marrs McLean Department of Biochemistry and Molecular Biology, Baylor College of Medicine, Houston, TX 77030, USA.
[4]
Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico "Carlo Besta," via Temolo 4, 20126 Milan, Italy.
[5]
Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
[6]
Institute of Clinical Molecular Biology, Christian-Albrechts-University of Kiel, Kiel 24105, Germany.
[7]
Department of Biological Chemistry, University of California, Irvine, Irvine, CA 92697, USA.
[8]
Division 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.
[9]
Department 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.
[10]
Neuroradiology Unit, Great Ormond Street Hospital for Children, London WC1N3JH, UK.
[11]
Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Center, Eberhard Karls University, 72076 Tübingen, Germany.
[12]
Department of Clinical Genetics, Erasmus University Medical Center, Erasmus MC Cancer Institute, 3000 Rotterdam, the Netherlands.
[13]
Department of Pediatric Neurology, Institute of Child Health, Children Hospital Lahore, Lahore 54600, Pakistan.
[14]
Department of Molecular Medicine, Biotechnology Research Center, Pasteur Institute of Iran, Tehran 1316943551, Iran.
[15]
Department of Medical Genetics, Kawsar Human Genetics Research Center, Tehran 15956-45513, Iran.
[16]
Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 5C1, Canada.
[17]
Department of Zoology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan.
[18]
Department of Biochemistry, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
[19]
Department of Microbiology, Abbottabad University of Science and Technology, Abbottabad 22500, Pakistan.
[20]
Neuroscience Research Center, Institute of Neuropharmacology, Kerman University of Medical Sciences, Kerman 7616914115, Iran.
[21]
Institute 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.
[22]
Department of Neurosciences, University of Padova, via Giustiniani 2, Padova 35128, Italy.
[23]
GeneDx, Gaithersburg, MD 20877, USA.
[24]
University of Washington, Seattle, WA 98195, USA.
[25]
Institute 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.
[26]
Department of Clinical Genetics, Erasmus University Medical Center, 3015 Rotterdam, the Netherlands.
[27]
Unit 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.
[28]
Center 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.
[29]
Department 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.
[30]
Aging and Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA. Electronic address: wanhee-yoon@omrf.org.
[31]
医学主题词
等位基因(Alleles);动物(Animals);共济失调(Ataxia);细胞, 培养的(Cells, Cultured);儿童(Child);队列研究(Cohort Studies);DNA突变分析(DNA Mutational Analysis);黑腹果蝇(Drosophila melanogaster);癫痫(Epilepsy);家庭卫生(Family Health);女(雌)性(Female);成纤维细胞(Fibroblasts);听觉丧失(Hearing Loss);人类(Humans);酮戊二酸脱氢酶复合物(Ketoglutarate Dehydrogenase Complex);男(雄)性(Male);突变(Mutation);RNA剪接(RNA Splicing);视觉障碍(Vision Disorders)
DOI
10.1016/j.ajhg.2021.11.003
PMID
34800363
发布时间
2025-05-30
- 浏览3
American journal of human genetics
American journal of human genetics
2368-2384页
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