Novel HSPB1 mutation causes both motor neuronopathy and distal myopathy.

ABSTRACT:

Objective

To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology.

Methods

Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein before and after heat shock treatment of primary skin fibroblasts.

Results

A novel HSPB1 variant (c.387C>G, p.Asp129Glu) segregated with the phenotype and was predicted to alter the conserved α-crystallin domain common to small heat shock proteins. At baseline, there was no difference in HSPB1 protein levels nor its binding partner αB-crystallin. Heat shock treatment increa

SUBMITTER: Lewis-Smith DJ 

PROVIDER: S-EPMC5089436 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature