Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy.

ABSTRACT:

Objective

To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles.

Methods

Exome sequencing was used to identify candidate mutations in the studied pedigree. Genome-wide linkage was then used to narrow the list of candidates to a single disease-associated mutation. Additional pedigrees with dominant or sporadic myopathy were screened for mutations in the same gene (DNAJB6) using exome sequencing. Skeletal muscle from affected patients was evaluated with histochemistry and immunohistochemical stains for dystrophy-related proteins, SMI-31, TDP43, and DNAJB6.

Results

Exome analysis in 3 affected individuals from a family with dominant LGMD and vacuolar pathology identified novel candidate mutations in 22

SUBMITTER: Harms MB 

PROVIDER: S-EPMC3314127 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature