Mutations in SEPT9 cause hereditary neuralgic amyotrophy

被引：163
作者：
Kuhlenbäumer, G
Hannibal, MC
Nelis, E
Schirmacher, A
Verpoorten, N
Meuleman, J
Watts, GDJ
De Vriendt, E
Young, P
Stögbauer, F
Halfter, H
Irobi, J
Goossens, D
Del-Favero, J
Betz, BG
Hor, H
Kurlemann, G
Bird, TD
Airaksinen, E
Mononen, T
Serradell, AP
Prats, JM
Van Broeckhoven, C
De Jonghe, P
Timmerman, V
Ringelstein, EB
Chance, PF
机构：
[1] Univ Munster, Dept Neurol, D-48149 Munster, Germany
[2] Univ Munster, Leibniz Inst Atherosclerosis Res, D-48149 Munster, Germany
[3] Univ Antwerp VIB, Dept Mol Genet, B-2020 Antwerp, Belgium
[4] Univ Washington, Dept Pediat, Div Genet & Dev Med, Seattle, WA 98195 USA
[5] Univ Munster, Dept Pediat Neurol, D-4400 Munster, Germany
[6] Univ Washington, Dept Neurol, Seattle, WA 98195 USA
[7] Vet Affairs Puget Sound Hlth Care Syst, Seattle, WA USA
[8] Univ Kuopio, Dept Paediat, FIN-70211 Kuopio, Finland
[9] Kuopio Univ Hosp, Dept Clin Genet, SF-70210 Kuopio, Finland
[10] Autonome Univ Barcelona, Hosp Mar, Dept Neurol, Barcelona, Spain
[11] Hosp Cruces, Div Child Neurol, Baracaldo, Basque Country, Spain
[12] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium
来源：
NATURE GENETICS | 2005年 / 37卷 / 10期
基金：
美国国家卫生研究院;
关键词：
D O I：
10.1038/ng1649
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
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.
引用
收藏
页码：1044 / 1046
页数：3
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