J Korean Neurol Assoc.
2007 May;25(2):251-254.
Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II
- Affiliations
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- 1Department of Neurology, Inje University, College of Medicine, Busan, Korea.
- 2Department of Laboratory Medicine, Samsung Medical Center Sungkyunkwan University School of Medicine, Seoul, Korea.
- 3Department of Neurology, Samsung Medical Center Sungkyunkwan University School of Medicine, Seoul, Korea. bjkim@smc.samsung.co.kr
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.
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