Mutations in SEPT9 cause hereditary neuralgic amyotrophy
Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, De Vriendt E, Young P, Stogbauer 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.
Nat Genet. 2005 Oct;37(10):1044-6. Epub 2005 Sep 25.
Department of Neurology, University of Munster, Domagkstr. 3, D-48149 Munster, Germany.
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.