Characterization of two novel intronic OPA1 mutations resulting in aberrant pre-mRNA splicing.

ABSTRACT:

Background

We report two novel splice region mutations in OPA1 in two unrelated families presenting with autosomal-dominant optic atrophy type 1 (ADOA1) (ADOA or Kjer type optic atrophy). Mutations in OPA1 encoding a mitochondrial inner membrane protein are a major cause of ADOA.

Methods

We analyzed two unrelated families including four affected individuals clinically suspicious of ADOA. Standard ocular examinations were performed in affected individuals of both families. All coding exons, as well as exon-intron boundaries of the OPA1 gene were sequenced. In addition, multiplex ligation-dependent probe amplification (MLPA) was performed to uncover copy number variations in OPA1. mRNA processing was monitored using RT-PCR and subsequent cDNA analysis.

Results

We report

SUBMITTER: Bolognini R 

PROVIDER: S-EPMC5331656 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature