Mutation survey of the optic atrophy 1 gene in 193 Chinese families with suspected hereditary optic neuropathy.

ABSTRACT:

Purpose

Dominant optic atrophy (DOA) is the most common form of autosomal inherited optic neuropathy, mainly caused by mutations in the optic atrophy 1 (OPA1) gene. The purpose of this study was to detect OPA1 gene mutations and associated phenotypes in Chinese patients with suspected hereditary optic neuropathy.

Methods

A cohort of 193 Chinese families with suspected hereditary optic neuropathy was collected, which had been excluded from the three common primary mitochondrial DNA mutations associated with Leber hereditary optic neuropathy in our prior screening. Sanger sequencing was used to analyze variants in the coding and adjacent regions of OPA1.

Results

In this study, 11 heterozygous OPA1 mutations, among which eight were novel and three were known, were identi

SUBMITTER: Chen Y 

PROVIDER: S-EPMC3566897 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature