title: A novel mutation in SCN9A in a child with congenital insensitivity to pain.
abstract: BACKGROUND
  [corrected] 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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Soroka Medical Center, Beer Sheva, Israel; Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel. Electronic address: zshorer@bgu.ac.il.
authors.forename: Zamir
authors.initials: Z
authors.lastname: Shorer
authors.affiliation: The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel; National Institute of Biotechnology, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: Einav
authors.initials: E
authors.lastname: Wajsbrot
authors.affiliation: Department of Pediatrics, Edmond & Lily Safra Children's Hospital, Sheba medical Center, Tel-Aviv, Israel.
authors.forename: Tamir-Hostovsky
authors.initials: TH
authors.lastname: Liran
authors.affiliation: Department of Pediatrics, Soroka Medical Center, Beer Sheva, Israel; Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: Jacov
authors.initials: J
authors.lastname: Levy
authors.affiliation: The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel; National Institute of Biotechnology, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: Ruti
authors.initials: R
authors.lastname: Parvari
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics*; D062556:NAV1.7 Voltage-Gated Sodium Channel / Q000235:genetics*; D000699:Pain Insensitivity, Congenital / Q000235:genetics*
chemical_list: D062556:NAV1.7 Voltage-Gated Sodium Channel; C486866:SCN9A protein, human
keywords: CIP; SCN9A; insensitivity to pain; mutation