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Mutations in SEPT9 cause hereditary neuralgic amyotrophy


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.

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Figure 1: Refined HNA candidate region, genomic organization of SEPT9, SEPT9 mutations in families with HNA and their conservation in different species.


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We thank the affected individuals and their relatives for participating in this study; K. Berger and E. Battologlu for contributing anonymous control samples; the VIB Genetic Service Facility and the Genetics Core of the Center on Human Development and Disability of the University of Washington for contributing technically to the genetic analyses; and A. Jacobs and S. Weiser for technical assistance. This work was supported by grants from the Deutsche Forschungsgemeinschaft to G.K., The Neuropathy Association and the US National Institutes of Health to P.F.C.; by the Veterans Affairs Research Fund to T.D.B.; and by the University of Antwerp, the Fund for Scientific Research, the Interuniversity Attraction Poles program of the Belgian Federal Science Policy Office and the Medical Foundation Queen Elisabeth to V.T. J.M. received a postdoctoral fellowship from the Charcot-Marie-Tooth Association; N.V. received a PhD fellowship of the Institute of Science and Technology; and E.N. and J.I. are postdoctoral fellows of the Fund for Scientific Research.

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Correspondence to Gregor Kuhlenbäumer.

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Supplementary information

Supplementary Fig. 1

Recombination events in HNA families used to narrow down the candidate region. (PDF 17 kb)

Supplementary Fig. 2

Allele sharing between HNA-families and informative recombinants in family K4018. (PDF 37 kb)

Supplementary Table 1

Self-generated STR-markers. (PDF 17 kb)

Supplementary Table 2

Primers and PCR-conditions for the mutations analysis of SEPT9 on genomic DNA. (PDF 15 kb)

Supplementary Table 3

PCR-primers, conditions and restriction enzymes for the PCR-RFLP analysis of SEPT9 mutations. (PDF 15 kb)

Supplementary Table 4

Accession numbers of SEPT9 cDNAs. (PDF 15 kb)

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Kuhlenbäumer, G., Hannibal, M., Nelis, E. et al. Mutations in SEPT9 cause hereditary neuralgic amyotrophy. Nat Genet 37, 1044–1046 (2005).

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