Two novel SCN9A mutations causing insensitivity to pain

Pain. 2009 May;143(1-2):155-8. doi: 10.1016/j.pain.2009.02.016. Epub 2009 Mar 21.

Abstract

The sensation of pain is important and there may be serious consequences if it is missing. Recently, the genetic basis for a channelopathy characterised by a congenital inability to experience pain has been described and channelopathy-associated insensitivity to pain has been proposed as a suitable name for this condition. Different mutations in the SCN9A gene causing loss of function of the voltage-gated sodium channel Nav1.7 have been reported in patients with this rare disease. Here we describe a woman with insensitivity to pain with two novel mutations in the SCN9A gene, coding for the Nav1.7 channel. We also discuss the finding of anosmia which apparently is a common feature in these patients.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Hypesthesia / diagnosis*
  • Hypesthesia / genetics*
  • Middle Aged
  • Mutation
  • NAV1.7 Voltage-Gated Sodium Channel
  • Pain / genetics*
  • Pain Threshold*
  • Sodium Channels / genetics*

Substances

  • NAV1.7 Voltage-Gated Sodium Channel
  • SCN9A protein, human
  • Sodium Channels