Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family

Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family Heat shock protein B3 (HSPB3) gene encodes a small heat‐shock protein 27‐like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot‐Marie‐Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha‐crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation. Clinical and electrophysiological features of the patients indicated the axonal type of CMT. Clinical symptoms without sensory involvements were similar between the present family and the previous family. Mutations in the HSPB1 and HSPB8 genes have been reported to be relevant with both types of CMT2 and dHMN. Our findings will help in the molecular diagnosis of CMT2 by expanding the phenotypic range due to the HSPB3 mutations. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of the Peripheral Nervous System Wiley

Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 Peripheral Nerve Society
ISSN
1085-9489
eISSN
1529-8027
D.O.I.
10.1111/jns.12249
Publisher site
See Article on Publisher Site

Abstract

Heat shock protein B3 (HSPB3) gene encodes a small heat‐shock protein 27‐like protein which has a high sequence homology with HSPB1. A mutation in the HSPB3 was reported as the putative underlying cause of distal hereditary motor neuropathy 2C (dHMN2C) in 2010. We identified a heterozygous mutation (c.352T>C, p.Tyr118His) in the HSPB3 from a Charcot‐Marie‐Tooth disease type 2 (CMT2) family by the method of targeted next generation sequencing. The mutation was located in the well conserved alpha‐crystalline domain, and several in silico predictions indicated a pathogenic effect of the mutation. Clinical and electrophysiological features of the patients indicated the axonal type of CMT. Clinical symptoms without sensory involvements were similar between the present family and the previous family. Mutations in the HSPB1 and HSPB8 genes have been reported to be relevant with both types of CMT2 and dHMN. Our findings will help in the molecular diagnosis of CMT2 by expanding the phenotypic range due to the HSPB3 mutations.

Journal

Journal of the Peripheral Nervous SystemWiley

Published: Jan 1, 2018

Keywords: ; ; ; ;

References

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