{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T10:22:12Z","timestamp":1777803732914,"version":"3.51.4"},"reference-count":31,"publisher":"SAGE Publications","issue":"10","license":[{"start":{"date-parts":[[2014,10,14]],"date-time":"2014-10-14T00:00:00Z","timestamp":1413244800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2015,9]]},"abstract":"<jats:p>Congenital insensitivity to pain with anhidrosis is a rare autosomal recessive disorder. It has been reported that the defect in the NTRK1 gene encoding tropomyosin-related kinase A (TrkA) can cause congenital insensitivity to pain with anhidrosis. Nerve growth factor (NGF), the product of NGFB, mediates biological effects by binding to and activating tropomyosin-related kinase A. In addition, necdin (encoded by NDN) is also essential in nerve growth factor\u2013tropomyosin-related kinase A pathway. We performed mutation analysis in NTRK1, NGFB, and NDN genes in a Chinese Han 17-year-old female patient with congenital insensitivity to pain with anhidrosis and her healthy family members. As a result, the patient was found to have a novel insertion in exon 7 (c.727insT) of NTRK1, which causes premature termination, and a single nucleotide polymorphism (rs2192206 G&gt;A) in NDN. Our findings imply that the genetic variations of the nerve growth factor\u2013tropomyosin-related kinase A pathway play an important role in congenital insensitivity to pain with anhidrosis.<\/jats:p>","DOI":"10.1177\/0883073814552438","type":"journal-article","created":{"date-parts":[[2014,10,15]],"date-time":"2014-10-15T02:02:14Z","timestamp":1413338534000},"page":"1357-1361","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["Novel\n                    <i>NTRK1<\/i>\n                    Frameshift Mutation in Congenital Insensitivity to Pain With Anhidrosis"],"prefix":"10.1177","volume":"30","author":[{"given":"Sen","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, P. R. 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