ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.

ABSTRACT:

Objective

Dominant optic atrophy (DOA) is the most common inherited optic neuropathy, with a prevalence of 1:12,000 to 1:25,000. OPA1 mutations are found in 70% of DOA patients, with a significant number remaining undiagnosed.

Methods

We screened 286 index cases presenting optic atrophy, negative for OPA1 mutations, by targeted next generation sequencing or whole exome sequencing. Pathogenicity and molecular mechanisms of the identified variants were studied in yeast and patient-derived fibroblasts.

Results

Twelve cases (4%) were found to carry novel variants in AFG3L2, a gene that has been associated with autosomal dominant spinocerebellar ataxia 28 (SCA28). Half of cases were familial with a dominant inheritance, whereas the others were sporadic, including de novo m

SUBMITTER: Caporali L 

PROVIDER: S-EPMC7383914 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature