SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

ABSTRACT:

Objective

To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy.

Methods

We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both with rimmed vacuolar pathology. We also evaluated the pathogenicity of identified mutations using immunohistochemistry, Western blot analysis, and expression studies.

Results

Sequencing identified a likely pathogenic c.1165+1 G>A splice donor variant in SQSTM1 in the affected members of 1 family and in an unrelated patient with sporadic distal myopathy. Affected patients had late-onset distal lower extremity weakness, myopathic features on EMG, and muscle pathology demonstrati

SUBMITTER: Bucelli RC 

PROVIDER: S-EPMC4553032 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature