遗传学
桑格测序
dbSNP公司
基因
粒线体疾病
外显子组测序
生物
表型
先证者
疾病
线粒体DNA
临床表型
复合杂合度
基因组
生物信息学
突变
医学
单核苷酸多态性
基因型
病理
作者
Wenjing Hu,Xiuxin Ling,Hongjun Fang,Jingwen Tang,Qingyun Kang,Haiyan Yang,Liwen Wu
出处
期刊:PubMed
日期:2023-04-10
卷期号:40 (4): 413-418
标识
DOI:10.3760/cma.j.cn511374-20220520-00341
摘要
To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease.A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES). Bioinformatics tools were used to analyze the pathogenic variants. Candidate variants were verified by Sanger sequencing of the child and her parents.WES revealed that the child has harbored compound heterozygous variants of the FDXR gene, namely c.310C>T (p.R104C) and c.235C>T (p.R79C), which were inherited from her father and mother, respectively. Neither variant has been reported in HGMD, PubMed, 1000 Genomes, and dbSNP databases. Both of the variants have been suggested as deleterious according to the prediction results from different bioinformatics analysis software.Mitochondrial diseases should be suspected for patients with multiple system involvement. The compound heterozygous variants of the FDXR gene probably underlay the disease in this child. Above finding has enriched the spectrum of FDXR gene mutations underlying mitochondrial F-S disease. WES can facilitate the diagnosis of mitochondrial F-S disease at the molecular level.
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