RGD Reference Report - Mutations in SEPT9 cause hereditary neuralgic amyotrophy. - Rat Genome Database
Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Mutations in SEPT9 cause hereditary neuralgic amyotrophy.

Authors: 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 
Citation: Kuhlenbaumer G, etal., Nat Genet. 2005 Oct;37(10):1044-6. Epub 2005 Sep 25.
RGD ID: 1599349
Pubmed: (View Article at PubMed) PMID:16186812
DOI: Full-text: DOI:10.1038/ng1649

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.


Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Septin9  (septin 9)

Genes (Mus musculus)
Septin9  (septin 9)

Genes (Homo sapiens)
SEPTIN9  (septin 9)

Additional Information