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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8108422PMC
http://dx.doi.org/10.1002/acn3.51364DOI Listing

Publication Analysis

Top Keywords

disease type
8
biallelic hspb1
8
hspb1 ps135f
8
ps135f pr136l
8
pr136l mutations
8
hspb1
5
mutations
5
charcot-marie-tooth disease
4
type associated
4
associated biallelic
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!