Open AccessVARS2 gene mutation leading to overall developmental delay in a child with epilepsy: A case report
Author(s) -
Xiaohui Wu,
Lin Song,
Yanqiu Zhou,
Wanqi Wang,
Jiayi Li,
Qian-Dui Chen
Publication year - 2022
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v10.i24.8749
Subject(s) - medicine , mitochondrial disease , lactic acidosis , epilepsy , respiratory chain , microcephaly , encephalopathy , mitochondrion , mitochondrial respiratory chain , compound heterozygosity , global developmental delay , pathology , mutation , mitochondrial dna , pediatrics , genetics , gene , biology , psychiatry , phenotype
The mitochondrial respiratory chain defects have become the most common cause of neurometabolic disorders in children and adults, which can occur at any time in life, often associated with neurological dysfunction, and lead to chronic disability and premature death. Approximately one-third of patients with mitochondrial disease have biochemical defects involving multiple respiratory chain complexes, suggesting defects in protein synthesis within the mitochondria. We here report a child with VARS2 gene mutations causing mitochondrial disease.