Genetic analysis of a child with combined oxidative phosphorylation deficiency 14 due to variant of FARS2 gene.
10.3760/cma.j.cn511374-20210731-00644
- Author:
Jian MA
1
;
Hongwei ZHANG
;
Yuqiang LYU
;
Min GAO
;
Dong WANG
;
Zhongtao GAI
;
Yi LIU
Author Information
1. Jinan Pediatric Research Institute, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China. liuyi-ly@126.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Infant;
Genetic Testing;
Mitochondrial Diseases;
Mitochondrial Proteins/genetics*;
Phenylalanine-tRNA Ligase;
Status Epilepticus;
Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(12):1393-1397
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic etiology for an infant featuring convulsive status epilepticus, developmental delay and elevated plasma lactate.
METHODS:Whole exome sequencing and mitochondrial D-loop sequencing were carried out for the infant. Candidate variants were verified by Sanger sequencing. Previously reported FARS2 gene variants were searched from the PubMed, Wanfang and CNKI databases.
RESULTS:The infant was found to harbor compound heterozygous variants of the FARS2 gene, namely c.925G>A (p.G309S) and c.405C>A (p.H135Q), which were inherited from its mother and father, respectively. The former has been recorded by the HGMD as a pathogenic variant, whilst the latter was predicted to be likely pathogenic based on the guidelines of the American College of Medical Genetics and Genomics. A total of 30 COXPD14 cases were retrieved from the literature, with common mutations including missense variants, in-frame deletions, splice-site variants and large deletions.
CONCLUSION:The common manifestations of COXPD14 have included developmental delay (96%), status epilepticus (97%) and increased lactic acid (96%). The compound heterozygous variants of the FARS2 gene probably underlay the disorder in this child.
