{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,2]],"date-time":"2026-07-02T10:06:52Z","timestamp":1782986812354,"version":"3.54.5"},"reference-count":31,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"CAMS Innovation Fund for Medical Sciences","award":["2016-I2M-3-003"],"award-info":[{"award-number":["2016-I2M-3-003"]}]},{"name":"The National Key Research and Development Programs of China","award":["2016YFC0905100"],"award-info":[{"award-number":["2016YFC0905100"]}]},{"name":"The National Key Research and Development Programs of China","award":["2016YFE0128400"],"award-info":[{"award-number":["2016YFE0128400"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Mol Pain"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive disorder, characterized by loss of algesthesis and inability to sweat. CIPA is known to be caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene ( NTRK1). However, the details of NTRK1 mutations in Chinese CIPA patients remain unclear. In the present study, we recruited 36 CIPA patients from 34 unrelated families in mainland China. Blood samples from these patients and their available familial members were collected and subjected to genetic analysis. We identified 27 mutations in NTRK1 from this cohort, including 15 novel mutations. Interestingly, we discovered two forms of novel recurrent mutations: the first was a large intragenic deletion c.429\u2013374_717\u2009+\u2009485del mediated by recombination between Alu elements, and the second was a deep intronic substitutions c.[851\u2013798C\u2009&gt;\u2009T;851\u2013794C\u2009&gt;\u2009G]. All probands were homozygotes or compound heterozygotes of these mutations. Current findings expand our knowledge about the mutation spectrum of NTRK1 in Chinese CIPA patients and provide more evidence for precise diagnosis of the clinically suspected patients with CIPA.<\/jats:p>","DOI":"10.1177\/1744806918781140","type":"journal-article","created":{"date-parts":[[2018,5,17]],"date-time":"2018-05-17T07:57:58Z","timestamp":1526543878000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":24,"title":["Novel\n                    <i>NTRK1<\/i>\n                    mutations in Chinese patients with congenital insensitivity to pain with anhidrosis"],"prefix":"10.1177","volume":"14","author":[{"given":"Xingzhu","family":"Geng","sequence":"first","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanshan","family":"Liu","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"XiuZhi","family":"Ren","sequence":"additional","affiliation":[{"name":"The People\u2019s Hospital of Wuqing District, Tianjin, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yun","family":"Guan","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology and Critical Care Medicine, Johns Hopkins University, School of Medicine, Baltimore, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanzhou","family":"Wang","sequence":"additional","affiliation":[{"name":"Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin","family":"Mao","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiuli","family":"Zhao","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Zhang","sequence":"additional","affiliation":[{"name":"McKusick-Zhang Center for Genetic Medicine, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences & School of Basic Medicine, Peking Union Medical College, Beijing, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,5,17]]},"reference":[{"key":"bibr1-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1963.00460030083008"},{"key":"bibr2-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-485"},{"key":"bibr3-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1023\/B:JOCI.0000029106.84310.5e"},{"key":"bibr4-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2005.10.007"},{"key":"bibr5-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2007.10.005"},{"key":"bibr6-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20000619)92:5<353::AID-AJMG12>3.0.CO;2-C"},{"key":"bibr7-1744806918781140","doi-asserted-by":"publisher","DOI":"10.4238\/2012.May.18.8"},{"key":"bibr8-1744806918781140","first-page":"197","volume":"11","author":"Shen HX","year":"2009","journal-title":"Zhongguo Dang Dai Er Ke Za Zhi"},{"key":"bibr9-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/16.3.1215"},{"key":"bibr10-1744806918781140","doi-asserted-by":"crossref","unstructured":"Shaikh SS, Chen Y, Halsall S, Nahorski MS, Omoto K, Young GT, Phelan A, Woods CG. A comprehensive functional analysis of NTRK1 missense mutations causing hereditary sensory and autonomic neuropathy type IV (HSAN IV).\n                      Hum Mutat\n                      2017; 38: 55\u201363.","DOI":"10.1002\/humu.23123"},{"key":"bibr11-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1186\/s12868-015-0215-x"},{"key":"bibr12-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1086\/302422"},{"key":"bibr13-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01943.x"},{"key":"bibr14-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1002\/wrna.1357"},{"key":"bibr15-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw010"},{"key":"bibr16-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2014.05.001"},{"key":"bibr17-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-014-0429-6"},{"key":"bibr18-1744806918781140","author":"Alexandrou A","journal-title":"J Genet"},{"key":"bibr19-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1086\/504600"},{"key":"bibr20-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1101\/gr.229302"},{"key":"bibr21-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/23.2.256"},{"key":"bibr22-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8417-1-4"},{"key":"bibr23-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1101\/gr.7.8.773"},{"key":"bibr24-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.1999.2864"},{"key":"bibr25-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmb.2005.02.043"},{"key":"bibr26-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1038\/mtna.2016.75"},{"key":"bibr27-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-009-0752-4"},{"key":"bibr28-1744806918781140","first-page":"178","volume":"16","author":"Gallus GN","year":"2010","journal-title":"Mol Vis"},{"key":"bibr29-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1126\/science.1082588"},{"key":"bibr30-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1007\/s004390051018"},{"key":"bibr31-1744806918781140","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21340"}],"container-title":["Molecular Pain"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1744806918781140","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/1744806918781140","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/1744806918781140","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T08:16:18Z","timestamp":1777709778000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/1744806918781140"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,1]]},"references-count":31,"alternative-id":["10.1177\/1744806918781140"],"URL":"https:\/\/doi.org\/10.1177\/1744806918781140","relation":{},"ISSN":["1744-8069","1744-8069"],"issn-type":[{"value":"1744-8069","type":"print"},{"value":"1744-8069","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,1]]},"article-number":"1744806918781140"}}