Charcot–Marie–Tooth disease type 2F associated with biallelic HSPB1 mutations

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Abstract

Objective: This work aims to expand knowledge regarding the genetic spectrum of HSPB1-related diseases. HSPB1 is a gene encoding heat shock protein 27, and mutations in HSPB1 have been identified as the cause of axonal Charcot–Marie–Tooth (CMT) disease type 2F and distal hereditary motor neuropathy (dHMN). Methods: Two patients with axonal sensorimotor neuropathy underwent detailed clinical examinations, neurophysiological studies, and next-generation sequencing with subsequent bioinformatic prioritization of genetic variants and in silico analysis of the likely causal mutation. Results: The HSPB1 p.S135F and p.R136L mutations were identified in homozygosis in the two affected individuals. Both mutations affect the highly conserved alpha-crystallin domain and have been previously described as the cause of severe CMT2F/dHMN, showing a strictly dominant inheritance pattern. Interpretation: Thus, we report for the first time two cases of biallelic HSPB1 p.S135F and p.R136L mutations in two families.

Original languageEnglish
Pages (from-to)1158-1164
Number of pages7
JournalAnnals of Clinical and Translational Neurology
Volume8
Issue number5
DOIs
Publication statusPublished - May 2021

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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