The m.7510T>C mutation: Hearing impairment and a complex neurologic phenotype.

ABSTRACT:

Objectives

Mutations in mitochondrial DNA cause a variety of clinical phenotypes ranging from a mild hearing impairment (HI) to severe encephalomyopathy. The MT-TS1 gene is a hotspot for mutations causing HI. The m.7510T>C mutation in MT-TS1 has been previously associated with non-syndromic HI in four families from different ethnic backgrounds.

Materials and methods

We describe the clinical, genetic, and histopathological findings in a Finnish family with the heteroplasmic m.7510T>C mutation in mitochondrial DNA.

Results

The family proband presented with a progressive mitochondrial disease phenotype including migraine, epilepsy, mild ataxia, and cognitive impairment in addition to HI. One young adult presented with HI only. Other family members had a mil

SUBMITTER: Kytovuori L 

PROVIDER: S-EPMC5745241 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature