A mechanism for low penetrance in an ALS family with a novel SOD1 deletion.

ABSTRACT:

Background

About 20% of familial amyotrophic lateral sclerosis (ALS) is caused by mutations in SOD1 and is typically transmitted as an autosomal dominant trait. However, due to reduced mutation penetrance, the disease may present in a recessive or sporadic manner.

Objective

To determine the factors responsible for the low penetrance of the SOD1 mutation.

Methods

Twelve members of a Canadian ALS family of Filipino origin were recruited for the study. SOD1 was sequenced in the proband. SOD1 expression was assessed by real-time-PCR and immunoblotting.

Results

The proband was a homozygous carrier of a novel 6 bp deletion in exon 2 (DeltaG27/P28), the pathologic significance of which was confirmed by immunohistochemistry. Eight living family members are heterozygote

SUBMITTER: Zinman L 

PROVIDER: S-EPMC2680064 | biostudies-literature | 2009 Mar

REPOSITORIES: biostudies-literature