A novel biallelic variant further delineates PRDX3-related autosomal recessive cerebellar ataxia.

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第一作者： Misbahuddin M,Rafeeq

第一单位： Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, 21589, Kingdom of Saudi Arabia.

作者： Misbahuddin M,Rafeeq ^[1] ; Muhammad,Umair ^[2] ; Muhammad,Bilal ^[3] ; Alaa Hamed,Habib ^[1] ; Ahmed,Waqas ^[4] ; Ziaullah M,Sain ^[5] ; Mohammad Zubair,Alam ^[6] ; Raja Hussain,Ali ^[7]

作者单位： Department of Pharmacology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, 21589, Kingdom of Saudi Arabia. ^[1] Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs, P.O. Box 3660, Riyadh, 11481, Kingdom of Saudi Arabia, (KSA). khugoo4u@yahoo.com.;Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan. khugoo4u@yahoo.com. ^[2] Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, Islamabad, Pakistan. ^[3] Department Zoology, Division of Science and Technology, University of Education Lahore, Punjab, Pakistan. ^[4] Department of Microbiology, Faculty of Medicine, Rabigh, King Abdulaziz University, Jeddah, 21589, Kingdom of Saudi Arabia. ^[5] Pre-Clinical Research Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.;Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia. ^[6] Department of Hematology/Oncology, Boston Children's Hospital, Harvard Medical School, Teaching Hospital, Boston, MA, USA. khugoo4u@yahoo.com. ^[7]

关键词 Cerebellar ataxia Nonsense variant Novel variant PRDX3 Profound deafness Whole-exome sequencing

主题词人类(Humans);共济失调(Ataxia);小脑共济失调(Cerebellar Ataxia);小脑疾病(Cerebellar Diseases);近亲(Consanguinity);家庭(Family);系谱(Pedigree)

DOI 10.1007/s10048-022-00701-9

PMID 36190665

发布时间 2023-02-26

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