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SEPT9

Wednesday 5 October 2005

Septins are implicated in formation of the cytoskeleton, cell division and tumorigenesis.

Pathology

- germline mutations in the gene septin 9 (SEPT9) in hereditary neuralgic amyotrophy (HNA) linked to chromosome 17q25

  • 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. HNA is the first monogenetic disease caused by mutations in a gene of the septin family.

- MLL-SEPT9 fusion gene by t(11;17)(q23;q25) in

See also

SEPTs SEPT1 SEPT2 SEPT3 SEPT4 SEPT5 SEPT6 SEPT7 SEPT8 SEPT9

References

- Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25). Santos J, Cerveira N, Correia C, Lisboa S, Pinheiro M, Torres L, Bizarro S, Vieira J, Viterbo L, Mariz JM, Teixeira MR. Cancer Genet Cytogenet. 2010 Feb;197(1):60-4. PMID: 20113838

- Laccone F, Hannibal M, Neesen J, Grisold W, Chance P, Rehder H. Dysmorphic syndrome of hereditary neuralgic amyotrophy associated with a SEPT9 gene mutation - a family study. Clin Genet. 2008 May 19. PMID: 18492087

- Kreuziger LM, Porcher JC, Ketterling RP, Steensma DP. An MLL-SEPT9 fusion and t(11;17)(q23;q25) associated with de novo myelodysplastic syndrome. Leuk Res. 2007 Aug;31(8):1153-6. PMID: 17250889

- Kuhlenbaumer G, Hannibal MC, Nelis E, Schirmacher A, Verpoorten N, Meuleman J, Watts GD, Vriendt ED, 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, Broeckhoven CV, Jonghe PD, Timmerman V, Ringelstein EB, Chance PF. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet. 2005 Oct;37(10):1044-1046. PMID: 16186812

- Hall PA, Russell SE. The pathobiology of the septin gene family. J Pathol. 2004 Nov;204(4):489-505. PMID: 15495264