Takagi M, Ozawa T, Hara K, Naruse S, Ishihara T, Shimbo J, Igarashi S, Tanaka K, Onodera O, Nishizawa M
Department of Neurology, Clinical Neuroscience Branch, Niigata University Brain Research Institute, Niigata, Japan.
Neurology. 2006 Apr 25;66(8):1251-2. doi: 10.1212/01.wnl.0000208415.90685.cd.
The authors report a Japanese patient with hereditary sensory and autonomic neuropathy type 2 (HSAN2) who has a new mutation of the HSN2 gene. The pathologic findings of the patient matched those of Canadian patients. They identified a homozygous 1134-1135 ins T mutation, resulting in a frameshift, and the subsequent premature stop codon at residue 378. These observations support the hypothesis that HSN2 is a causative gene for HSAN2.
作者报告了一名患有2型遗传性感觉和自主神经病变（HSAN2）的日本患者，该患者的HSN2基因存在新的突变。该患者的病理结果与加拿大患者的相符。他们鉴定出一个纯合的1134 - 1135位插入T突变，导致移码，随后在第378位残基处出现过早的终止密码子。这些观察结果支持HSN2是HSAN2致病基因的假说。
