Clinical and genetic features of Charcot‐Marie‐Tooth disease 2F and hereditary motor neuropathy 2B in Japan

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  • Hajime Tanabe
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Yujiro Higuchi
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Jun‐Hui Yuan
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Akihiro Hashiguchi
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Akiko Yoshimura
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Satoshi Ishihara
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Satoshi Nozuma
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Yuji Okamoto
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Eiji Matsuura
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan
  • Hiroyuki Ishiura
    Department of Neurology, Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Jun Mitsui
    Department of Neurology, Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Ryotaro Takashima
    Department of Neurology Dokkyo Medical University Tochigi Japan
  • Norito Kokubun
    Department of Neurology Dokkyo Medical University Tochigi Japan
  • Kengo Maeda
    Department of Neurology National Hospital Organization Higashi‐ohmi General Medical Center Shiga Japan
  • Yuri Asano
    Department of Neurology Tokyo Metropolitan Neurological Hospital Tokyo Japan
  • Yoko Sunami
    Department of Neurology Tokyo Metropolitan Neurological Hospital Tokyo Japan
  • Yu Kono
    Department of Neurology The Jikei University School of Medicine Tokyo Japan
  • Yasunori Ishigaki
    Department of Neurology Coral Clinic Tokyo Japan
  • Shosaburo Yanamoto
    Department of Neurology Fukuoka University School of Medicine Fukuoka Japan
  • Jiro Fukae
    Department of Neurology Fukuoka University School of Medicine Fukuoka Japan
  • Hiroshi Kida
    Division of Respirology, Neurology, and Rheumatology, Department of Medicine Kurume University School of Medicine Fukuoka Japan
  • Mitsuya Morita
    Division of Neurology Jichi Medical University Tochigi Japan
  • Shoji Tsuji
    Department of Neurology, Graduate School of Medicine The University of Tokyo Tokyo Japan
  • Hiroshi Takashima
    Department of Neurology and Geriatrics Kagoshima University, Graduate School of Medical and Dental Sciences Kagoshima Japan

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<jats:title>Abstract</jats:title><jats:p>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 <jats:italic>HSPB1</jats:italic> 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 <jats:italic>HSPB1</jats:italic> 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 <jats:italic>HSPB1</jats:italic> mutations result in two phenotypes of inherited neuropathies and extend the phenotypic spectrum of <jats:italic>HSPB1</jats:italic>‐related disorders.</jats:p>

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