Thorsteinn Bjornsson, Elias Olafsson, Hildigunnur Katrinardottir, Asgeir Sigurdsson, Guðny A Arnadottir, Brynjar Jensson, Asmundur Oddsson, Arnor Vikingsson, Gyda Bjornsdottir, Thorgeir E Thorgeirsson, Patrick Sulem, Olafur Arni Sveinsson
{"title":"[Congenital insensitivity to pain caused by a novel SCN9A-genotype].","authors":"Thorsteinn Bjornsson, Elias Olafsson, Hildigunnur Katrinardottir, Asgeir Sigurdsson, Guðny A Arnadottir, Brynjar Jensson, Asmundur Oddsson, Arnor Vikingsson, Gyda Bjornsdottir, Thorgeir E Thorgeirsson, Patrick Sulem, Olafur Arni Sveinsson","doi":"10.17992/lbl.2026.06.897","DOIUrl":null,"url":null,"abstract":"<p><p>Congenital insensitivity to pain (CIP) refers to a group of extremely rare genetic disorders characterized by a lifelong inability to sense pain. Interestingly, in most cases, other neurological functions remain essentially intact. Here, we present the long-term follow-up of a 73 year old Icelandic male who, along with his two brothers, were diagnosed with CIP in childhood. This report details his clinical history, neurological findings, and whole genome sequencing results, which confirm and elucidate the genetic basis of his condition, explained by compound heterozygosity of two rare mutations in SCN9A. One has previously been described in CIP (p.Lys1659Ter). The other is a novel CIP variant consisting of a rare deletion (c.417-15_4174-14delAT) that causes exon 23 to be spliced out, and loss of 18 amino acids from the protein.</p>","PeriodicalId":49924,"journal":{"name":"Laeknabladid","volume":"112 6","pages":"276-279"},"PeriodicalIF":0.4000,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Laeknabladid","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.17992/lbl.2026.06.897","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MEDICINE, GENERAL & INTERNAL","Score":null,"Total":0}
引用次数: 0
Abstract
Congenital insensitivity to pain (CIP) refers to a group of extremely rare genetic disorders characterized by a lifelong inability to sense pain. Interestingly, in most cases, other neurological functions remain essentially intact. Here, we present the long-term follow-up of a 73 year old Icelandic male who, along with his two brothers, were diagnosed with CIP in childhood. This report details his clinical history, neurological findings, and whole genome sequencing results, which confirm and elucidate the genetic basis of his condition, explained by compound heterozygosity of two rare mutations in SCN9A. One has previously been described in CIP (p.Lys1659Ter). The other is a novel CIP variant consisting of a rare deletion (c.417-15_4174-14delAT) that causes exon 23 to be spliced out, and loss of 18 amino acids from the protein.
期刊介绍：
Læknablaðið er fræðirit sem birtir vísinda og yfirlitsgreinar og annað efni sem byggir á rannsóknum innan læknisfræði eða skyldra greina. Læknablaðið er gefið út af Læknafélagi Íslands. Blaðið er sent til allra félagsmanna. Það var fyrst gefið út árið 1904 en hefur komið samfellt út frá árinu 1915. Blaðið kemur út 11 sinnum á ári og er prentað í 2000 eintökum. Allt efni Læknablaðsins frá árinu 2000 er aðgengilegt á heimasíðu blaðsins á laeknabladid.is og er aðgangur endurgjaldslaus og öllum opinn.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
