Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO.

ABSTRACT:

Objective

To determine the pathogenicity of a novel POLG mutation in a man with late-onset autosomal recessive progressive external ophthalmoplegia using clinical, molecular, and biochemical analyses.

Methods

A multipronged approach with detailed neurologic examinations, muscle biopsy analyses, molecular genetic studies, and in vitro biochemical characterization.

Results

The patient had slowly progressive bilateral ptosis and severely reduced horizontal and vertical gaze. Muscle biopsy showed slight variability in muscle fiber size, scattered ragged red fibers, and partial cytochrome c oxidase deficiency. Biallelic mutations were identified in the POLG gene encoding the catalytic A subunit of POLγ. One allele carried a novel mutation in the exonuclease d

SUBMITTER: Hedberg-Oldfors C 

PROVIDER: S-EPMC6975171 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature