Identification of AFG3L2 dominant optic atrophy following reanalysis of clinical exome sequencing.

ABSTRACT:

Purpose

To highlight the importance of the utility of clinical exome sequencing, and show how it led to the diagnosis of nonsyndromic autosomal dominant optic atrophy arising from an autosomal dominant variant in AFG3L2.

Observations

A healthy father and daughter of East African heritage experienced the onset of vision loss in the first decade of life due to optic atrophy. No additional neurologic or neuroimaging abnormalities were detected. Clinical exome sequencing was initially performed and provided a negative result. Reanalysis of the sequencing data revealed an autosomal dominant pathogenic variant in AFG3L2, c.1064C>T (p.Thr355Met), a gene that was recently identified to be associated with non-syndromic optic atrophy. This variant has previously been rep

SUBMITTER: Brodsky MC 

PROVIDER: S-EPMC10038781 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature