Mutations in SEPT9 cause hereditary neuralgic amyotrophy by Kuhlenbäumer Gregor, Hannibal Mark C, Nelis Eva, Schirmacher Anja, Verpoorten Nathalie, Meuleman Jan, Watts Giles D J, De Vriendt Els, Young Peter, Stögbauer Florian, Halfter Hartmut, Irobi Joy, Goossens Dirk, Del-Favero Jurgen, Betz Benjamin G, Hor Hyun, Kurlemann Gert, Bird Thomas D, Airaksinen Eila, Mononen Tarja, Serradell Adolfo Pou, Prats José M, Van Broeckhoven Christine, De Jonghe Peter, Timmerman Vincent, Ringelstein E Bernd, Chance Phillip F in Nature genetics (2005).

[PMID: 16186812] PubMed


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.

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