Nature Genetics
37, 1044 - 1046 (2005)
Published online: 25 September 2005; | doi:10.1038/ng1649
Mutations in SEPT9 cause hereditary neuralgic amyotrophyGregor Kuhlenbäumer1, 2, 3, 13, Mark C Hannibal4, 13, Eva Nelis3, 13, Anja Schirmacher1, Nathalie Verpoorten3, Jan Meuleman3, 4, Giles D J Watts4, Els De Vriendt3, Peter Young1, Florian Stögbauer1, Hartmut Halfter1, Joy Irobi3, Dirk Goossens3, Jurgen Del-Favero3, Benjamin G Betz4, Hyun Hor1, Gert Kurlemann5, Thomas D Bird6, 7, Eila Airaksinen8, Tarja Mononen9, Adolfo Pou Serradell10, José M Prats11, Christine Van Broeckhoven3, Peter De Jonghe3, 12, Vincent Timmerman3, 13, E Bernd Ringelstein1, 2, 13
& Phillip F Chance4, 6, 131
Department of Neurology, University of Münster, Domagkstr. 3, D-48149 Münster, Germany. 2
Leibniz Institute of Atherosclerosis Research, University of Münster, Domagkstr. 3, D-48149 Münster, Germany. 3
Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium. 4
Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA. 5
Department of Pediatric Neurology, University of Münster, Germany. 6
Department of Neurology, University of Washington, Seattle, Washington, USA. 7
Veterans Affairs Puget Sound Health Care System, Seattle, Washington, USA. 8
Department of Paediatrics, University of Kuopio, Kuopio, Finland. 9
Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland. 10
Department of Neurology, Hospital del Mar, Autonome University of Barcelona, Barcelona, Spain. 11
Division of Child Neurology, Hospital de Cruces, Barakaldo, Basque Country, Spain. 12
Division of Neurology, University Hospital, Antwerpen, Belgium. 13
These authors contributed equally to this work.
Correspondence should be addressed to Gregor Kuhlenbäumer gkuhlen@uni-muenster.de 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.
MORE ARTICLES LIKE THIS These links to content published by NPG are automatically generated.
|
