Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II

J Korean Neurol Assoc > Volume 25(2); 2007 > Article

Journal of the Korean Neurological Association 2007;25(2): 251-254.

한국인 유전성 감각 자율신경병증 2형 환자에서 새로이 발견된 두 개의 HSN2 유전자 돌연변이

배종석, 조현정a 안재영b 김병준b 기창석a

인제대학교 의과대학 신경과학교실, 성균관대학교 의과대학 삼성서울병원 진단검사의학교실a, 신경과학교실b

Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II

Jong Seok Bae

Department of Neurology, Inje University, College of Medicine, Busan; Department of Laboratory Medicinea and Neurologyb Samsung Medical Center Sungkyunkwan University School of Medicine†, Seoul, Korea

Abstract

A 38-year-old Korean man was diagnosed with hereditary sensory and autonomic neuropathy (HSAN) type 2 because of his chronic sensory neuropathy and progressive acro-mutilation. Genetic analysis revealed that he was a compound heterozygous for two novel mutations in the HSN2 gene including a nonsense mutation (Gln73X) and a 1-bp insertion mutation (Asp379fsX1). To our knowledge, this is the first report of a genetically confirmed case of HSAN type 2 in the Asian population and supports the genetic homogeneity of this rare disease.KeyWords:Hereditary Sensory and Autonomic Neuropathies, HSN2, Mutation