Clinical and genetic characteristics of children with COX20-associated mitochondrial disorder: case report and literature review.

ABSTRACT:

Background

The deficiency of cytochrome c oxidase 20 is a rare autosomal recessive mitochondrial disorder characterized by ataxia, dysarthria, dystonia and sensory neuropathy.

Case presentation

In this study, we describe a patient from a non-consanguineous family exhibiting developmental delay, ataxia, hypotonia, dysarthria, strabismus, visual impairment and areflexia. An examination of nerve conduction showed a normal result at first but revealed axonal sensory neuropathy later. This situation has not been reported in any literatures. The whole-exome sequencing analysis revealed that the patient harbored compound heterozygous mutations (c.41 A > G and c.259G > T) of the COX20 gene. By literature review, 5 patients carried the same compound heterozygous mutations.

Conclus

SUBMITTER: Chen L 

PROVIDER: S-EPMC10124009 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature