{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,25]],"date-time":"2026-04-25T20:29:09Z","timestamp":1777148949589,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T00:00:00Z","timestamp":1634774400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2021,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital insensitivity to pain (CIP) conditions are a group of Mendelian disorders with clinical and genetic heterogeneity. CIP with anhidrosis (CIPA) is a distinct subtype caused by biallelic variants in the <jats:italic>NTRK1<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, six families with CIPA were recruited and submitted to a series of clinical and genetic examinations. Whole\u2010exome sequencing and whole\u2010genome sequencing were applied to perform a comprehensive genetic analysis. Sanger sequencing was used as a validation method.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>These patients exhibited phenotypic variability. All probands in the six families were positive for biallelic pathogenic variants in <jats:italic>NTRK1<\/jats:italic>. Five individual variants, namely <jats:italic>NTRK1<\/jats:italic>: (NM_002529.3) c.851\u201033T&gt;A, c.717+2T&gt;C, c.1806\u20102A&gt;G, c.1251+1G&gt;A, and c.851\u2010794C&gt;G, including three novel ones, were identified, which were carried by the six patients in a homozygous or compound heterozygous way. The validation results indicated that all the parents of the six probands, except for one father and one mother, were monoallelic carriers of a single variant.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The findings in our study extended the variation spectrum of the <jats:italic>NTRK1<\/jats:italic>\u00a0gene and highlighted the advantage of the integrated application of multiplatform genetic technologies.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1839","type":"journal-article","created":{"date-parts":[[2021,10,21]],"date-time":"2021-10-21T17:19:32Z","timestamp":1634836772000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of novel variations in the <i>NTRK1<\/i> gene causing congenital insensitivity to pain with anhidrosis"],"prefix":"10.1002","volume":"9","author":[{"given":"Shang","family":"Li","sequence":"first","affiliation":[{"name":"Department of Anesthesiology Peking University People's Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3933-1451","authenticated-orcid":false,"given":"Hua\u2010ying","family":"Hu","sequence":"additional","affiliation":[{"name":"Jiaen Genetics Laboratory Beijing Jiaen Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun\u2010Jun","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Anesthesiology Peking University People's Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhan\u2010ke","family":"Feng","sequence":"additional","affiliation":[{"name":"Jiaen Genetics Laboratory Beijing Jiaen Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yong\u2010qing","family":"Sun","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xu","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Beijing Stomatological Hospital, School of Stomatology Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kai","family":"Yang","sequence":"additional","affiliation":[{"name":"Prenatal Diagnosis Center Beijing Obstetrics and Gynecology Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya\u2010zhou","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Pediatric Orthopedics The Third Hospital of Hebei Medical University Shijiazhuang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dong\u2010liang","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Orthodontics, Beijing Stomatological Hospital, School of Stomatology Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,10,21]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38120"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.841400"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.257"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3308"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bmb\/ldaa003"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh096"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M116.722587"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1177\/1744806918781140"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2007.00790.x"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1224"},{"key":"e_1_2_10_12_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Indo Y.","year":"2008"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01943.x"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0896-485"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.21340"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.2147\/JPR.S188566"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.tins.2015.08.010"},{"key":"e_1_2_10_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns.12205"},{"key":"e_1_2_10_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_10_20_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Schon K. 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