Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

ABSTRACT:

Background

Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis.

Methods

Whole exome sequencing (WES) was performed in 73 patients with clinically diagnosed LGMD. A filtering strategy aimed at identification of variants related to the disease included integrative analysis of WES data and human phenotype ontology (HPO) terms, analysis of genes expressed in muscle, analysis of the disease-associated interactome and copy number variants analysis.

Results

Genetic diagnosis was possible in 68.5% of cases. On average, 36.3 rare variants in genes associated with various mu

SUBMITTER: Fichna JP 

PROVIDER: S-EPMC6029161 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature