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Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan
Author(s) -
Tanabe Hajime,
Higuchi Yujiro,
Yuan JunHui,
Hashiguchi Akihiro,
Yoshimura Akiko,
Ishihara Satoshi,
Nozuma Satoshi,
Okamoto Yuji,
Matsuura Eiji,
Ishiura Hiroyuki,
Mitsui Jun,
Takashima Ryotaro,
Kokubun Norito,
Maeda Kengo,
Asano Yuri,
Sunami Yoko,
Kono Yu,
Ishigaki Yasunori,
Yanamoto Shosaburo,
Fukae Jiro,
Kida Hiroshi,
Morita Mitsuya,
Tsuji Shoji,
Takashima Hiroshi
Publication year - 2018
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1111/jns.12252
Subject(s) - tooth disease , medicine , disease , hereditary motor and sensory neuropathy , pathology
Abstract Mutations in small heat shock protein beta‐1 (HspB1) have been linked to Charcot‐Marie‐Tooth (CMT) disease type 2F and distal hereditary motor neuropathy type 2B. Only four cases with HSPB1 mutations have been reported to date in Japan. In this study between April 2007 and October 2014, we conducted gene panel sequencing in a case series of 1,030 patients with inherited peripheral neuropathies (IPNs) using DNA microarray, targeted resequencing, and whole‐exome sequencing. We identified HSPB1 variants in 1.3% (13 of 1,030) of the patients with IPNs, who exhibited a male predominance. Based on neurological and electrophysiological findings, seven patients were diagnosed with CMT disease type 2F, whereas the remaining six patients were diagnosed with distal hereditary motor neuropathy type 2B. P39L, R127W, S135C, R140G, K141Q, T151I, and P182A mutations identified in 12 patients were described previously, whereas a novel K123* variant with unknown significance was found in 1 patient. Diabetes and impaired glucose tolerance were detected in 6 of the 13 patients. Our findings suggest that HSPB1 mutations result in two phenotypes of inherited neuropathies and extend the phenotypic spectrum of HSPB1 ‐related disorders.