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Human Genetics

, Volume 106, Issue 6, pp 594–596 | Cite as

Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis

  • Dennis J. Hulme
  • Ian P. Blair
  • Jennifer L. Dawkins
  • Garth A. Nicholson
Original Investigation
  • 56 Downloads

Abstract.

Hereditary sensory neuropathy type I (HSN-I) is an autosomal dominant peripheral neuropathy affecting sensory and motor neurons. The disease involves distal sensory loss, distal muscle wasting and weakness, and variable neural deafness. The HSN1 locus has been mapped to a genetic interval of 3-4 cM on chromosome 9q22.1-q22.3 and is flanked by markers D9S1781 and FB19B7. This interval contains the gene NFIL3, a transcription factor that is regulated by the cytokine IL-3. Northern blot analysis of NFIL3 showed a ubiquitously expressed 2.2-kb mRNA. Expression was highest in the lung, with lower levels of expression in the brain and spinal cord. Mutation analysis by direct sequencing of reverse transcription/polymerase chain reaction products from HSN-I patients excluded the coding region of the NFIL3 from being involved in the pathogenesis of HSN-I.

Keywords

Northern Blot Analysis Entire Code Region Marker D9S1781 Dorsal Root Entry Zone Suppressor Locus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 2000

Authors and Affiliations

  • Dennis J. Hulme
    • 1
  • Ian P. Blair
    • 1
  • Jennifer L. Dawkins
    • 1
  • Garth A. Nicholson
    • 1
  1. 1.Molecular Medicine Laboratory, University of Sydney, Clinical Sciences Building, Concord Hospital, NSW 2139Australia

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