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

J Korean Neurol Assoc > Volume 30(4); 2012 > Article

Journal of the Korean Neurological Association 2012;30(4): 333-336.

BSCL2유전자의 N88S돌연변이가 확인된 제5형 원위유전운동신경병증(dHMN-V)

정화경, 정기화 a 박진모 구혜수 b 최경규 박기덕 최병옥

이화여자대학교 의과대학 신경과학교실, 공주대학교 자연과학대학 생명과학과 , 이화여자대학교 의과대학 병리학교실

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

Hwa Kyoung Chung

Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea Department of Biological Science a , Kongju National University, Gongju, Korea Department of Pathology b , Ewha Womans University School of Medicine, Seoul, Korea

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. Key Words: BSCL2, Distal hereditary motor neuropathy, Exome