Two Novel Mutations in the HSN2 Gene Identified in a Korean Patients with Hereditary Sensory Autonomic Neuropathy Type II.
- Author:
Jong Seok BAE
1
;
Hyn Jung CHO
;
Jae Young AN
;
Byoung Joon KIM
;
Chang Seok KI
Author Information
1. Department of Neurology, Inje University, College of Medicine, Busan, Korea.
- Publication Type:Case Report
- Keywords:
Hereditary Sensory and Autonomic Neuropathies;
HSN2;
Mutation
- MeSH:
Adult;
Asian Continental Ancestry Group;
Codon, Nonsense;
Hereditary Sensory and Autonomic Neuropathies;
Humans;
Mutagenesis, Insertional;
Rare Diseases
- From:Journal of the Korean Neurological Association
2007;25(2):251-254
- CountryRepublic of Korea
- Language:Korean
-
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.
