SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

ABSTRACT:

Objective

Autosomal dominant optic atrophy (ADOA) starts in early childhood with loss of visual acuity and color vision deficits. OPA1 mutations are responsible for the majority of cases, but in a portion of patients with a clinical diagnosis of ADOA, the cause remains unknown. This study aimed to identify novel ADOA-associated genes and explore their causality.

Methods

Linkage analysis and sequencing were performed in multigeneration families and unrelated patients to identify disease-causing variants. Functional consequences were investigated in silico and confirmed experimentally using the zebrafish model.

Results

We defined a new ADOA locus on 7q33-q35 and identified 3 different missense variants in SSBP1 (NM_001256510.1; c.113G>A [p.(Arg38Gln)], c.320G>A [p.(Arg1

SUBMITTER: Jurkute N 

PROVIDER: S-EPMC8855788 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature