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KMID : 0359720120300040333
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Journal of the Korean Neurological Association
2012 Volume.30 No. 4 p.333 ~ p.336
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Distal Hereditary Motor Neuropathy Type V (dHMN-V) With N88S Mutation in BSCL2 Gene
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Chung Hwa-Kyoung
Chung Ki-Wha
Park Jin-Mo
Koo Hea-Soo
Choi Kyoung-Kyu
Park Kee-Duk
Choi Byung-Ok
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Abstract
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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.
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KEYWORD
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BSCL2, Distal hereditary motor neuropathy, Exome
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