Journal of the Korean neurological association (대한신경과학회지)

Korean Neurological Association (대한신경과학회)
권호 표지

Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene

BSCL2유전자의 N88S돌연변이가 확인된 제5형 원위유전운동신경병증(dHMN-V)

  • Chung, Hwa Kyoung (Department of Neurology, Ewha Womans University School of Medicine) ;
  • Chung, Ki Wha (Department of Biological Science, Kongju National University) ;
  • Park, Jin-Mo (Department of Neurology, Ewha Womans University School of Medicine) ;
  • Koo, Hye soo (Department of Pathology, Ewha Womans University School of Medicine) ;
  • Choi, Kyoung-Gyu (Department of Neurology, Ewha Womans University School of Medicine) ;
  • Park, Kee Duk (Department of Neurology, Ewha Womans University School of Medicine) ;
  • Choi, Byung-Ok (Department of Neurology, Ewha Womans University School of Medicine)
  • 정화경 (이화여자대학교 의과대학 신경과학교실) ;
  • 정기화 (공주대학교 자연과학대학 생명과학과) ;
  • 박진모 (이화여자대학교 의과대학 신경과학교실) ;
  • 구혜수 (이화여자대학교 의과대학 병리학교실) ;
  • 최경규 (이화여자대학교 의과대학 신경과학교실) ;
  • 박기덕 (이화여자대학교 의과대학 신경과학교실) ;
  • 최병옥 (이화여자대학교 의과대학 신경과학교실)
  • Received : 2012.05.29
  • Accepted : 2012.07.17
  • Published : 2012.11.01

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Abstract

Berardinelli-Seip congenital lipodystrophy 2 (BSCL2) gene is known to be associated with different clinical phenotypes; Silver syndrome, Charcot-Marie-Tooth type 2 with a dominant hand involvement and distal hereditary motor neuropathy type V (dHMN-V). Up to now, only two heterozygous mutations (N88S and S90L) in BSCL2 have been reported. We identified a N88S BSCL2 mutation in a dHMN-V family with a spastic gait by whole-exome sequencing. To our knowledge, this is the first report of a N88S BSCL2 mutation in Korean patient.

Keywords

Acknowledgement

This work was supported by the grant of the National Project for Personalized Genomic Medicine, Ministry for Health & Welfare, Repulblic of Korea (A111218-GM07), and by Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education, Science and Technology (2011-0021533).