作者
Melis Kose, Ebru Canda, Mehtap Kagnici, Ayça Aykut, Ogün Adebali, Asude Durmaz, Aylin Bircan, Gulden Diniz, Cenk Eraslan, Engin Kose, Aycan Ünalp, Ünsal Yılmaz, Berk Ozyilmaz, Taha Reşid Özdemir, Tahir Atik, Sema Kalkan Uçar, Robert McFarland, Robert W Taylor, Garry K Brown, Mahmut Çoker, Ferda Özkınay
发表日期
2020/12/1
期刊
Molecular Genetics and Metabolism Reports
卷号
25
页码范围
100657
出版商
Elsevier
简介
Introduction
Pathogenic variants in SURF1, a nuclear-encoded gene encoding a mitochondrial chaperone involved in COX assembly, are one of the most common causes of Leigh syndrome (LS).
Material-methods
Sixteen patients diagnosed to have SURF1-related LS between 2012 and 2020 were included in the study. Their clinical, biochemical and molecular findings were recorded. 10/16 patients were diagnosed using whole-exome sequencing (WES), 4/16 by Sanger sequencing of SURF1, 1/16 via targeted exome sequencing and 1/16 patient with whole-genome sequencing (WGS). The pathogenicity of SURF1 variants was evaluated by phylogenetic studies and modelling on the 3D structure of the SURF1 protein.
Results
We identified 16 patients from 14 unrelated families who were either homozygous or compound heterozygous for SURF1 pathogenic variants. Nine different SURF1 variants were detected …
学术搜索中的文章
M Kose, E Canda, M Kagnici, A Aykut, O Adebali… - Molecular Genetics and Metabolism Reports, 2020