Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.

ABSTRACT:

Background

Behr's syndrome is a classical phenotypic description of childhood-onset optic atrophy combined with various neurological symptoms, including ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.

Objective

Here we describe 4 patients with the classical Behr's syndrome phenotype from 3 unrelated families who carry homozygous nonsense mutations in the C12orf65 gene encoding a protein involved in mitochondrial translation.

Methods

Whole exome sequencing was performed in genomic DNA and oxygen consumption was measured in patient cell lines.

Results

We detected 2 different homozygous C12orf65 nonsense mutations in 4 patients with a homogeneous clinical presentation matching the historical

SUBMITTER: Pyle A 

PROVIDER: S-EPMC4568311 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature