Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene.
- Author:
Hwa Kyoung CHUNG
1
;
Ki Wha CHUNG
;
Jin Mo PARK
;
Hye Soo KOO
;
Kyoung Gyu CHOI
;
Kee Duk PARK
;
Byung Ok CHOI
Author Information
1. Department of Neurology, Ewha Womans University School of Medicine, Seoul, Korea. bochoi@ewha.ac.kr
- Publication Type:Case Report
- Keywords:
BSCL2;
Distal hereditary motor neuropathy;
Exome
- MeSH:
Exome;
Gait Disorders, Neurologic;
Hand;
Humans;
Lipodystrophy, Congenital Generalized;
Silver;
Spastic Paraplegia, Hereditary
- From:Journal of the Korean Neurological Association
2012;30(4):333-336
- CountryRepublic of Korea
- Language:Korean
-
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.
