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   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References FTP Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer ACP Haplotyper Genome Scanner
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Septin9  (septin 9)

Genes (Mus musculus)
Septin9  (septin 9)

Genes (Homo sapiens)
SEPTIN9  (septin 9)


Additional Information