A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.

ABSTRACT:

Introduction

Mutations in the HSPB1 gene encoding the small heat shock protein B1 are associated with an autosomal dominant, axonal form of Charcot-Marie-Tooth disease 2F (CMT2F) and distal hereditary motor neuropathy. Recently, distal myopathy had been described in a patient carrying HSPB1 mutation adding to the complexity of phenotypes resulting from HSPB1 mutations.

Methods

Five patients in a family with concerns of hereditary neuropathy were included. Detailed clinical examinations, including assessments of motor and sensory function, and electrophysiological data were obtained. Genetic analysis was requested through a commercial laboratory. In vitro studies were carried out to assess the pathogenicity of the novel mutation found in this family studies.

Results

SUBMITTER: Amornvit J 

PROVIDER: S-EPMC5561327 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature