COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation.

ABSTRACT:

Objective

To describe the long-term follow-up and pathogenesis in a child with leukoencephalopathy and cytochrome c oxidase (COX) deficiency due to a novel homozygous nonsense mutation in APOPT1/COA8.

Methods

The patient was clinically investigated at 3, 5, 9, and 25 years of age. Brain MRI, repeat muscle biopsies with biochemical, morphologic, and protein expression analyses were performed, and whole-genome sequencing was used for genetic analysis.

Results

Clinical investigation revealed dysarthria, dysphagia, and muscle weakness following pneumonia at age 3 years. There was clinical regression leading to severe loss of ambulation, speech, swallowing, hearing, and vision. The clinical course stabilized after 2.5 years and improved over time. The MRI pattern in

SUBMITTER: Hedberg-Oldfors C 

PROVIDER: S-EPMC7323480 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature