J Korean Neurol Assoc.  2012 Nov;30(4):333-336.

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

Affiliations
  • 1Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. bochoi@ewha.ac.kr
  • 2Department of Biological Science, Kongju National University, Gongju, Korea.
  • 3Department of Pathology, 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.

Keyword

BSCL2; Distal hereditary motor neuropathy; Exome

MeSH Terms

Exome
Gait Disorders, Neurologic
Hand
Humans
Lipodystrophy, Congenital Generalized
Silver
Spastic Paraplegia, Hereditary
Silver
Spastic Paraplegia, Hereditary
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