Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene

J Korean Neurol Assoc > Volume 22(6); 2004 > Article

Journal of the Korean Neurological Association 2004;22(6): 673-676.

새로 발견된 PMP22 유전자의 Frame Shift 돌연변이(Ala106fs)를 보인 Charcot-Marie-Tooth 1A

최병옥, 정기화* 박기덕 최경규 김승민† 김용성‡ 이미선* 선우일남†

이화여자대학교 의과대학 신경과학교실, 공주대학교 생명과학과*, 연세대학교 의과대학 신경과학교실†, 경남대학교 화학과‡

Charcot-Marie-Tooth type 1A Patient with a Novel Frame Shift Mutation (Ala106fs) in the PMP22 Gene

Byung-Ok Choi

Department of Neurology, Ewha Womans University College of Medicine, Seoul, Korea Department of Biological Science, Kongju National University*, Gongju, Korea Department of Neurology, Yonsei University College of Medicine†, Seoul, Korea Department of Chemistry, Kyungnam University‡, Masan, Korea

Abstract

Charcot-Marie-Tooth disease (CMT) with hearing impairment is a clinically distinct rare entity described in a few families, usually with a demyelinating neuropathy. The molecular basis for this disease has not been established with certainty. Audiological evaluation has revealed auditory neuropathy in the affected individual. We report a CMT1A family with sensorineural hearing loss and a novel frame shift mutation Ala106fs (318delT) in the PMP22 gene.Key Words: CMT1A, PMP22, Deafness, Frame shift mutation