1 40 1 Text A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text. Citation List Month Backlog URL Address <a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">http://doi.org/10.1111/j.1399-0004.2007.00790.x</a> Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations Publisher An entity responsible for making the resource available Clinical Genetics Date A point or period of time associated with an event in the lifecycle of the resource 2007 Subject The topic of the resource Female; Humans; Male; Mutation; DNA Mutational Analysis; Pedigree; Chromosomes; Human; Genetics; Population; Chromosome Mapping; Haplotypes; Pair 2/genetics; Codon; Congenital/genetics; Founder Effect; Frameshift Mutation; Nonsense; Pain Insensitivity; Sequence Deletion; Sodium Channels/genetics Creator An entity primarily responsible for making the resource Goldberg YP; MacFarlane J; MacDonald ML; Thompson J; Dube MP; Mattice M; Fraser R; Young C; Hossain S; Pape T; Payne B; Radomski C; Donaldson G; Ives E; Cox J; Younghusband HB; Green R; Duff A; Boltshauser E; Grinspan GA; Dimon JH; Sibley BG; Andria G; Toscano E; Kerdraon J; Bowsher D; Pimstone SN; Samuels ME; Sherrington R; Hayden MR Description An account of the resource Congenital indifference to pain (CIP) is a rare condition in which patients have severely impaired pain perception, but are otherwise essentially normal. We identified and collected DNA from individuals from nine families of seven different nationalities in which the affected individuals meet the diagnostic criteria for CIP. Using homozygosity mapping and haplotype sharing methods, we narrowed the CIP locus to chromosome 2q24-q31, a region known to contain a cluster of voltage-gated sodium channel genes. From these prioritized candidate sodium channels, we identified 10 mutations in the SCN9A gene encoding the sodium channel protein Nav1.7. The mutations completely co-segregated with the disease phenotype, and nine of these SCN9A mutations resulted in truncation and loss-of-function of the Nav1.7 channel. These genetic data further support the evidence that Nav1.7 plays an essential role in mediating pain in humans, and that SCN9A mutations identified in multiple different populations underlie CIP. 2007 Identifier An unambiguous reference to the resource within a given context <a href="http://doi.org/10.1111/j.1399-0004.2007.00790.x" target="_blank" rel="noreferrer">10.1111/j.1399-0004.2007.00790.x</a> Rights Information about rights held in and over the resource Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s). Type The nature or genre of the resource Journal Article 2007 Andria G Backlog Boltshauser E Bowsher D Chromosome Mapping Chromosomes Clinical Genetics Codon Congenital/genetics Cox J Dimon JH DNA Mutational Analysis Donaldson G Dube MP Duff A Female Founder Effect Frameshift Mutation Fraser R Genetics Goldberg YP Green R Grinspan GA Haplotypes Hayden MR Hossain S Human Humans Ives E Journal Article Kerdraon J MacDonald ML MacFarlane J Male Mattice M Mutation Nonsense Pain Insensitivity Pair 2/genetics Pape T Payne B Pedigree Pimstone SN Population Radomski C Samuels ME Sequence Deletion Sherrington R Sibley BG Sodium Channels/genetics Thompson J Toscano E Young C Younghusband HB