Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES.

ABSTRACT:

Objective

To study the genetic and phenotypic spectrum of patients harboring recessive mutations in BVES.

Methods

We performed whole-exome sequencing in a multicenter cohort of 1929 patients with a suspected hereditary myopathy, showing unexplained limb-girdle muscular weakness and/or elevated creatine kinase levels. Immunohistochemistry and mRNA experiments on patients' skeletal muscle tissue were performed to study the pathogenicity of identified loss-of-function (LOF) variants in BVES.

Results

We identified 4 individuals from 3 families harboring homozygous LOF variants in BVES, the gene that encodes for Popeye domain containing protein 1 (POPDC1). Patients showed skeletal muscle involvement and cardiac conduction abnormalities of varying natur

SUBMITTER: De Ridder W 

PROVIDER: S-EPMC6501641 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature