OPTN 691_692insAG is a founder mutation causing recessive ALS and increased risk in heterozygotes.

ABSTRACT:

Objective

To detect genetic variants underlying familial and sporadic amyotrophic lateral sclerosis (ALS).

Methods

We analyzed 2 founder Jewish populations of Moroccan and Ashkenazi origins and ethnic matched controls. Exome sequencing of 2 sisters with ALS from Morocco was followed by genotyping the identified causative null mutation in 379 unrelated patients with ALS and 1,000 controls. The shared risk haplotype was characterized using whole-genome single nucleotide polymorphism array.

Results

We identified 5 unrelated patients with ALS homozygous for the null 691_692insAG mutation in the optineurin gene (OPTN), accounting for 5.8% of ALS of Moroccan origin and 0.3% of Ashkenazi. We also identified a high frequency of heterozygous carriers among patients with ALS, 8

SUBMITTER: Goldstein O 

PROVIDER: S-EPMC4773945 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature