先证者
桑格测序
外显子组测序
复合杂合度
小头畸形
遗传学
突变
生物
乳酸性酸中毒
基因
医学
内分泌学
作者
Yulong Shen,Kai Yan,Minyue Dong,Rong Yang,Xinwen Huang
出处
期刊:PubMed
日期:2020-10-25
卷期号:49 (5): 574-580
标识
DOI:10.3785/j.issn.1008-9292.2020.10.04
摘要
To analyze the clinical phenotype and genetic characteristics of a family with combined oxidative phosphorylation deficiency 1 (COXPD-1).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.Whole exome sequencing and Sanger validation showed compound heterozygous mutations of GFM1 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 GFM1 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.GFM1 gene c.688G>A and c.1576C>T compound heterozygous mutations are the cause of this family of COXPD-1.
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