Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.

ABSTRACT:

Objective

To investigate the genetic causes of suspected dysferlinopathy and to reveal the genetic profile for myopathies with dysferlin deficiency.

Methods

Using next-generation sequencing, we analyzed 42 myopathy-associated genes, including DYSF, in 64 patients who were clinically or pathologically suspected of having dysferlinopathy. Putative pathogenic mutations were confirmed by Sanger sequencing. In addition, copy-number variations in DYSF were investigated using multiplex ligation-dependent probe amplification. We also analyzed the genetic profile for 90 patients with myopathy with dysferlin deficiency, as indicated by muscle specimen immunohistochemistry, including patients from a previous cohort.

Results

We identified putative pathogenic mutations in 38 patie

SUBMITTER: Izumi R 

PROVIDER: S-EPMC4811388 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature