Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene.
10.3760/cma.j.cn511374-20210718-00604
- Author:
Ganye ZHAO
1
;
Xiaoyan ZHAO
;
Xuechao ZHAO
;
Li'na LIU
;
Conghui WANG
;
Xiangdong KONG
Author Information
1. Genetics and Prenatal Diagnosis Center, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China. kongxdgene@163.com.
- Publication Type:Journal Article
- MeSH:
China;
DNA, Mitochondrial/genetics*;
Female;
Genetic Testing;
Humans;
Membrane Proteins/genetics*;
Metabolism, Inborn Errors/genetics*;
Mitochondrial Proteins/genetics*;
Mutation;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Syndrome
- From:
Chinese Journal of Medical Genetics
2022;39(10):1085-1088
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology of a Chinese pedigree affected with infantile hepatitis syndrome.
METHODS:Genes associated with liver diseases subjected to high-throughput sequencing. Candidate variants were validated by Sanger sequencing of the proband and his parents. The pathogenicity of the variants was analyzed through bioinformatic analysis.
RESULTS:High-throughput sequencing revealed that the proband has harbored c.182T>C (p.F61S) and c.293C>T (p.P98L) variants of the MPV17 gene, which were verified by Sanger sequencing to be inherited from his parents. The variant c.182T>C (p.F61S) was unreported previously and predicted to be likely pathogenic by bioinformatic analysis.
CONCLUSION:The proband was caused by the compound heterozygous variations of MPV17 gene including c.182T>C (p.F61S) and c.293C>T (p.P98L). Discovery of the novel variant has enriched the spectrum of pathogenic variants of the MPV17 gene.
