X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene

J Korean Neurol Assoc > Volume 22(1); 2004 > Article

Journal of the Korean Neurological Association 2004;22(1): 76-79.

X-linked Charcot-Marie-Tooth 환자에서 새로이 발견된 Connexin32 유전자의 Missense 돌연변이 Cys168Arg

최병옥, 선우일남 박기덕 김용재 최경규 이미선 황정희 정기화

이화여자대학교 의과대학 신경과학교실, 연세대학교 의과대학 신경과학교실*, 공주대학교 생명과학과†

X-linked Charcot-Marie-Tooth Patient with a Novel Cys168Arg Missense Mutation in the Connexin32 Gene

Byung-Ok Choi

Department of Neurology, Ewha Womans University College of Medicine, Seoul; Department of Neurology, Yonsei University College of Medicine*, Seoul; Department of Biological Science, Kongju National University†, Gongju, Korea

Abstract

X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.Key Words: X-linked Charcot-Marie-Tooth (CMTX), Connexin 32, Missense mutation