Compound heterozygous NDUFS1 variants identified in a Chinese pedigree affected with mitochondrial respiratory chain complex I deficiency.
10.3760/cma.j.cn511374-20200209-00062
- Author:
Chao GAO
1
;
Baiyun CHEN
;
Yang GAO
;
Huichun ZHANG
;
Liye SHI
;
Weimeng LI
;
Haibei LI
;
Jiaojiao HUANG
Author Information
1. Department of Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University, Henan Provincial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. gaochao996@sina.com.
- Publication Type:Journal Article
- MeSH:
Child;
China;
DNA Copy Number Variations;
Electron Transport;
Humans;
Mutation;
NADH Dehydrogenase/genetics*;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(3):247-250
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a Chinese pedigree with suspected mitochondrial functional defects through combined next-generation sequencing (NGS), copy number variation sequencing (CNV-seq), and mitochondrial DNA (mtDNA) sequencing.
METHODS:Clinical data of the proband and his family members were collected. The patient and his parents were subjected to family-trio whole-exome sequencing (WES), CNV-seq and mtDNA variant detection. Candidate variant was verified by Sanger sequencing.
RESULTS:Trio-WES revealed that the proband has carried compound heterozygous variants of the NDUFS1 gene, including a paternally derived c.64C>T (p.R22X) nonsense variant and a maternally derived c.845A>G (p.N282S) missense variant. Both variants may cause loss of protein function. No variant that may cause the phenotype was identified by CNV-seq and mtDNA variant analysis.
CONCLUSION:Children with suspected mitochondrial disorders may have no specific syndromes or laboratory findings. A comprehensive strategy including mtDNA testing may facilitate the diagnosis and early clinical interventions.
