Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Autor: Peter De Jonghe, Dirk Goossens, Jurgen Del-Favero, Thomas D. Bird, José M Prats, Nathalie Verpoorten, Florian Stögbauer, J. Meuleman, Eila M. Airaksinen, Tarja Mononen, Anja Schirmacher, Mark C. Hannibal, E. Bernd Ringelstein, Benjamin G Betz, Vincent Timmerman, Phillip F. Chance, Gregor Kuhlenbäumer, Gert Kurlemann, Adolfo Pou Serradell, Hyun Hor, Eva Nelis, Peter Young, Els De Vriendt, Giles D. J. Watts, Hartmut Halfter, Christine Van Broeckhoven, Joy Irobi
Rok vydání: 2005
Předmět:
Zdroj: Nature genetics
ISSN: 1061-4036
Popis: 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.
Databáze: OpenAIRE