Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, Pou-Serradell A, Martin J J, Timmerman V, De Jonghe P
Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium.
Neurology. 2004 Mar 23;62(6):1001-2. doi: 10.1212/01.wnl.0000115388.10828.5c.
Hereditary sensory neuropathy type I (HSN I) is an autosomal dominant ulceromutilating disorder of the peripheral nervous system characterized by progressive sensory loss. HSN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long-chain base subunit 1 (SPTLC1). A novel missense mutation in exon 13 of the SPTLC1 gene (c.1160G-->C; p.G387A) in twin sisters with a severe HSN I phenotype is reported.
遗传性感觉神经病I型（HSN I）是一种常染色体显性外周神经系统溃疡致残性疾病，其特征为进行性感觉丧失。HSN I基因座定位于9号染色体q22.1 - 22.3，由编码丝氨酸棕榈酰转移酶长链碱基亚基1（SPTLC1）的基因突变引起。本文报道了一对患有严重HSN I表型的双胞胎姐妹，其SPTLC1基因第13外显子存在一个新的错义突变（c.1160G→C；p.G387A）。
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