Hu Wenjing, Ling Xiuxin, Fang Hongjun, Tang Jingwen, Kang Qingyun, Yang Haiyan, Wu Liwen
Department of Neurology, Hunan Provincial Children's Hospital, Changsha, Hunan 410007, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Apr 10;40(4):413-418. doi: 10.3760/cma.j.cn511374-20220520-00341.
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.
分析一名疑似线粒体F-S病患儿的临床表型和基因变异。
选取一名于2020年11月5日就诊于湖南省儿童医院神经内科的线粒体F-S病患儿作为本研究的研究对象。收集该患儿的临床资料。对该患儿进行全外显子组测序（WES）。使用生物信息学工具分析致病变异。通过对患儿及其父母进行Sanger测序验证候选变异。
WES显示该患儿携带FDXR基因的复合杂合变异，即c.310C>T（p.R104C）和c.235C>T（p.R79C），分别遗传自其父亲和母亲。HGMD、PubMed、千人基因组和dbSNP数据库中均未报道过这两种变异。根据不同生物信息学分析软件的预测结果，这两种变异均被认为是有害的。
对于有多系统受累的患者应怀疑线粒体疾病。FDXR基因的复合杂合变异可能是该患儿疾病的病因。上述发现丰富了线粒体F-S病潜在的FDXR基因突变谱。WES有助于在分子水平上诊断线粒体F-S病。
