Mutations in SEPT9 cause hereditary neuralgic amyotrophy
Mutations in SEPT9 cause hereditary neuralgic amyotrophy
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DOI：
10.1038/ng1649
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发表时间：
2005-10-01
期刊：
影响因子：
30.8
通讯作者：
Chance, PF
中科院分区：
文献类型：
--
作者：
Kuhlenbäumer, G;Hannibal, MC;Chance, PF
遗传性神经痛性肌萎缩症是一种常染色体显性遗传的复发性臂丛神经病变。HNA由感染或分娩等环境因素引发。我们报告了6个与染色体17q25连锁的HNA家族中的3个基因Septin 9（SEPT9）突变。HNA是第一个由septin家族基因突变引起的单基因疾病。细胞分裂素与细胞骨架的形成、细胞分裂和肿瘤发生有关。
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant recurrent neuropathy affecting the brachial plexus. HNA is triggered by environmental factors such as infection or parturition. We report three mutations in the gene septin 9 (SEPT9) in six families with HNA linked to chromosome 17q25. HNA is the first monogenetic disease caused by mutations in a gene of the septin family. Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.