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Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Nature Genetics volume 37, pages 1044–1046 (2005)Cite this article

Abstract

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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Acknowledgements

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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Author notes

  1. Gregor Kuhlenbäumer, Mark C Hannibal, Eva Nelis, Vincent Timmerman, E Bernd Ringelstein and Phillip F Chance: These authors contributed equally to this work.

Authors and Affiliations

  1. Department of Neurology, University of Münster, Domagkstr. 3, Münster, D-48149, Germany

    Gregor Kuhlenbäumer, Anja Schirmacher, Peter Young, Florian Stögbauer, Hartmut Halfter, Hyun Hor & E Bernd Ringelstein

  2. Leibniz Institute of Atherosclerosis Research, University of Münster, Domagkstr. 3, Münster, D-48149, Germany

    Gregor Kuhlenbäumer & E Bernd Ringelstein

  3. Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Antwerpen, Belgium

    Gregor Kuhlenbäumer, Eva Nelis, Nathalie Verpoorten, Jan Meuleman, Els De Vriendt, Joy Irobi, Dirk Goossens, Jurgen Del-Favero, Christine Van Broeckhoven, Peter De Jonghe & Vincent Timmerman

  4. Division of Genetics and Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA

    Mark C Hannibal, Jan Meuleman, Giles D J Watts, Benjamin G Betz & Phillip F Chance

  5. Department of Pediatric Neurology, University of Münster, Germany

    Gert Kurlemann

  6. Department of Neurology, University of Washington, Seattle, Washington, USA

    Thomas D Bird & Phillip F Chance

  7. Veterans Affairs Puget Sound Health Care System, Seattle, Washington, USA

    Thomas D Bird

  8. Department of Paediatrics, University of Kuopio, Kuopio, Finland

    Eila Airaksinen

  9. Department of Clinical Genetics, Kuopio University Hospital, Kuopio, Finland

    Tarja Mononen

  10. Department of Neurology, Hospital del Mar, Autonome University of Barcelona, Barcelona, Spain

    Adolfo Pou Serradell

  11. Division of Child Neurology, Hospital de Cruces, Barakaldo, Basque Country, Spain

    José M Prats

  12. Division of Neurology, University Hospital, Antwerpen, Belgium

    Peter De Jonghe

Authors
  1. Gregor Kuhlenbäumer
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  2. Mark C Hannibal
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  9. Peter Young
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  10. Florian Stögbauer
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  14. Jurgen Del-Favero
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  15. Benjamin G Betz
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  16. Hyun Hor
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  17. Gert Kurlemann
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  18. Thomas D Bird
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  19. Eila Airaksinen
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  20. Tarja Mononen
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  21. Adolfo Pou Serradell
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  22. José M Prats
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  23. Christine Van Broeckhoven
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  24. Peter De Jonghe
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  25. Vincent Timmerman
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  26. E Bernd Ringelstein
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  27. Phillip F Chance
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Corresponding author

Correspondence to Gregor Kuhlenbäumer.

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Competing interests

The authors declare no competing financial interests.

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). https://doi.org/10.1038/ng1649

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