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Short report
An abnormal mRNA produced by a novel PMP22 splice site mutation associated with HNPP
  1. E Bellone1,
  2. P Balestra2,
  3. G Ribizzi3,
  4. A Schenone4,
  5. G Zocchi5,
  6. E Di Maria6,
  7. F Ajmar7,
  8. P Mandich8
  1. 1Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, Genova, Italy
  2. 2Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
  3. 3Division of Neurology, San Martino Hospital, Genova
  4. 4Department of Neurosciences, Ophthalmology and Genetics, Section of Neurology, University of Genova
  5. 5Division of Neurology, San Martino Hospital, Genova
  6. 6Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
  7. 7Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
  8. 8Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova
  1. Correspondence to:
 Dr Emilia Bellone
 Department of Neurosciences, Ophthalmology and Genetics, Section of Medical Genetics, University of Genova, c/o DIMI – Viale Benedetto XV, 6, 16132 Genova, Italy; ebellone{at}unige.it

Abstract

Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant, demyelinating neuropathy. Point mutations in the PMP22 gene are a rare cause of HNPP. A novel PMP22 splice site mutation (c.179+1 G→C) is reported in an HNPP family. By reverse transcriptase-polymerase chain reaction experiments, this mutation was shown to cause the synthesis of an abnormal mRNA in which a premature stop codon probably produces a truncated non-functional protein.

  • CMT1A, Charcot-Marie-Tooth disease type 1A
  • HNPP, hereditary neuropathy with liability to pressure palsies
  • PFGE, pulsed field gel electrophoresis
  • SSCP, single strand conformation polymorphism
  • HNPP
  • splice site mutation
  • PMP22

https://doi.org/10.1136/jnnp.2005.075242

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    Footnotes

    • Competing interests: none declared