A stop codon mutation in SCN9A causes lack of pain sensation.

doi:10.1093/hmg/ddm160

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Article

A stop codon mutation in SCN9A causes lack of pain sensation.

Human molecular genetics - 1 Sept 2007

Ahmad Sultan, Dahllund Leif, Eriksson Anders B, Hellgren Dennis, Karlsson Urban, Lund Per-Eric, Meijer Inge A, Meury Luc, Mills Tracy, Moody Adrian, Morinville Anne, Morten John, O'donnell Dajan, Raynoschek Carina, Salter Hugh, Rouleau Guy A, Krupp Johannes J

Abstract excerpt

The general lack of pain experience is a rare occurrence in humans, and the molecular causes for this phenotype are not well understood. Here we have studied a Canadian family from Newfoundland with members who exhibit a congenital inability to experience pain. We have mapped the locus to a 13.7 Mb region on chromosome 2q (2q24.3-2q31.1). Screening of candidate genes in this region identified a protein-truncating...

Topics

Animals
Base Sequence
Brain
Codon, Terminator
Humans
Macaca fascicularis
Male
Mice
Mice, Inbred BALB C
Mice, Knockout

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Models, Biological

Molecular Sequence Data

Mutation

NAV1.7 Voltage-Gated Sodium Channel

Pain

Pain Insensitivity, Congenital

Pedigree

Phenotype

Source

Open in PubMed

Identifiers

PMID: 17597096
DOI: 10.1093/hmg/ddm160

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-17597096-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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