期刊
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
卷 23, 期 1, 页码 60-66出版社
WILEY
DOI: 10.1111/jns.12249
关键词
CMT2; dHMN2C; HSPB3; peripheral neuropathy; targeted sequencing
资金
- Korean Health Technology R&D Project, Ministry of Health Welfare [HI14C3484, HI15C1560, HI16C0426]
- National Research Foundation, Republic of Korea [2016R1A5A2007009, 2017R1A2A2A05001356, 2017R1A2B2004699]
- National Research Foundation of Korea [2017R1A2B2004699, 2017R1A2A2A05001356] Funding Source: Korea Institute of Science & Technology Information (KISTI), National Science & Technology Information Service (NTIS)
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.
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