A novel mutation in SCN9A in a child with congenital insensitivity to pain

Zamir Shorer, Einav Wajsbrot, Tamir Hostovsky Liran, Jacov Levy, Ruti Parvari

Research output: Contribution to journalArticlepeer-review

Abstract

Backround Congenital insensitivity to pain (CIP) is a rare condition in which patients have no pain perception and anosmia but are otherwise essentially normal (OMIM 243000). The recent discovery of the genetic defects underlying 3 monogenic pain disorders has provided additional and important insights about some components of human pain. Genetic studies in families demonstrating recessively inherited channelopathy-associated insensitivity to pain have identified nonsense mutations that result in truncation of the voltage-gated sodium channel type IX subunit (SCN9A), a 113.5-kb gene comprising coding 26 exons. Here we describe a patient with CIP with a new mutation in SCN9A not described yet. Methods All exons were sequenced. Result All 26 coding exons were sequenced and two changes were identified in homozygosity in exon 10: c.1126 A > C causing K376Q and c.1124delG causing p.G375Afs* frame shift. Conclusion We report a novel, loss-of-function mutation in homozygosity that causes congenital insensitivity to pain and provide a comprehensive clinical description of the patient. This contributes to the clinical and neurophysiological characteristic of the sodium channel Nav1.7 channelopathy and expand our genetic knowledge which might provide more accurate and comprehensive clinical electrophysiological and genetic information.

Original languageAmerican English
Pages (from-to)73-76
Number of pages4
JournalPediatric Neurology
Volume50
Issue number1
DOIs
StatePublished - 1 Jan 2014

Keywords

  • CIP
  • SCN9A
  • insensitivity to pain
  • mutation

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

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