[一个伴有联合性氧化磷酸化缺陷1型的家族中的基因突变分析]
[Analysis of gene mutations in a family with combined oxidative phosphorylation deficiency 1].
作者信息
Shen Yaping, Yan Kai, Dong Minyue, Yang Rulai, Huang Xinwen
机构信息
Department of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Regional Medical Centre for Children, Hangzhou 310052, China.
Department of Reproductive Genetics, Women's Hospital, Zhejiang University School of Medicine, Key Laboratory of Reproductive Genetics, Ministry of Education, Hangzhou 310006, China.
出版信息
Zhejiang Da Xue Xue Bao Yi Xue Ban. 2020 Oct 25;49(5):574-580. doi: 10.3785/j.issn.1008-9292.2020.10.04.
OBJECTIVE
To analyze the clinical phenotype and genetic characteristics of a family with combined oxidative phosphorylation deficiency 1 (COXPD-1).
METHODS
The whole exome sequencing was performed in parents of the proband; and the genetic defects were verified by Sanger sequencing technology in the dried blood spot of the proband, the amniotic fluid sample of the little brother of proband, and the peripheral blood of the parents.
RESULTS
Whole exome sequencing and Sanger validation showed compound heterozygous mutations of gene c.688G>A(p.G230S) and c.1576C>T (p.R526X) in both the proband and her little brother, and the c.1576C>T of variant was first reported. The two patients were died in early infancy, and presented with metabolic acidosis, high lactic acid, abnormal liver function, feeding difficulties, microcephaly, development retardation and epilepsy.
CONCLUSIONS
gene c.688G>A and c.1576C>T compound heterozygous mutations are the cause of this family of COXPD-1.
目的
分析1型联合氧化磷酸化缺陷（COXPD - 1）家系的临床表型及遗传特征。
方法
对先证者父母进行全外显子测序；采用Sanger测序技术在先证者干血斑、先证者弟弟羊水样本及父母外周血中验证基因缺陷。
结果
全外显子测序及Sanger验证显示，先证者及其弟弟均存在基因c.688G>A（p.G230S）和c.1576C>T（p.R526X）的复合杂合突变，其中c.1576C>T变异为首次报道。两名患者均于婴儿早期死亡，表现为代谢性酸中毒、高乳酸血症、肝功能异常、喂养困难、小头畸形、发育迟缓及癫痫。
结论
基因c.688G>A和c.1576C>T复合杂合突变是该家系COXPD - 1的致病原因。
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