Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Nat Genet. 2005 Oct;37(10):1044-6. doi: 10.1038/ng1649. Epub 2005 Sep 25.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Brachial Plexus Neuritis / genetics*
  • Chromosomes, Human, Pair 17 / genetics*
  • Dogs
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Rats
  • Septins


  • GTP Phosphohydrolases
  • SEPTIN9 protein, human
  • Septins

Associated data

  • OMIM/162100