{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,14]],"date-time":"2026-04-14T09:24:11Z","timestamp":1776158651745,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T00:00:00Z","timestamp":1763596800000},"content-version":"vor","delay-in-days":19,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T00:00:00Z","timestamp":1761955200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2025,11]]},"abstract":"ABSTRACT<\/jats:title>\n \n Objective<\/jats:title>\n \n This study aims to investigate the phenotypes, mutation types, and loci associated with\n TP63<\/jats:italic>\n \u2010related syndrome by focusing on an affected proband.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Employing a proband collection strategy, we identified a family presenting with\n TP63<\/jats:italic>\n \u2010related syndrome and performed thorough clinical evaluations on the proband and family members. We subsequently documented the phenotype, mutation type, and locus of the\n TP63<\/jats:italic>\n gene, followed by Sanger DNA sequencing analysis.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We identified a family affected by\n TP63<\/jats:italic>\n \u2010related syndrome. The proband, a young adult male, demonstrated congenital anodontia, hypohidrosis, sparse hair, and additional features characteristic of ectodermal dysplasia. Further clinical manifestations included left ear hearing impairment, cleft lip\/palate, hypospadias, and syndactyly. Sequencing analysis revealed a missense nucleotide variant (c.184G>C, p.Val62Leu) in exon 2 of the\n TP63<\/jats:italic>\n gene. This variant was absent from established SNP databases and was not detected in other family members or unrelated healthy individuals.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n The family exhibits significant symptoms consistent with\n TP63<\/jats:italic>\n syndrome. The identified missense mutation is preliminarily considered to be pathogenic.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jgm.70055","type":"journal-article","created":{"date-parts":[[2025,11,20]],"date-time":"2025-11-20T22:48:55Z","timestamp":1763678935000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["De Novo Missense Variant in\n TP63<\/i>\n Gene: Insights on Clinical and Molecular Investigations"],"prefix":"10.1002","volume":"27","author":[{"given":"Jilong","family":"Chen","sequence":"first","affiliation":[{"name":"School of Stomatology Fujian Medical University Fuzhou China"},{"name":"Department of Endodontics I Stomatological Hospital of Xiamen Medical College Xiamen China"},{"name":"Xiamen Key Laboratory of Stomatological Disease Diagnosis and Treatment Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xufeng","family":"Xi","sequence":"additional","affiliation":[{"name":"School of Stomatology Fujian Medical University Fuzhou China"},{"name":"Department of Endodontics I Stomatological Hospital of Xiamen Medical College Xiamen China"},{"name":"Xiamen Key Laboratory of Stomatological Disease Diagnosis and Treatment Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoman","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Endodontics I Stomatological Hospital of Xiamen Medical College Xiamen China"},{"name":"Xiamen Key Laboratory of Stomatological Disease Diagnosis and Treatment Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Lin","sequence":"additional","affiliation":[{"name":"School of Stomatology Fujian Medical University Fuzhou China"},{"name":"Department of Endodontics I Stomatological Hospital of Xiamen Medical College Xiamen China"},{"name":"Xiamen Key Laboratory of Stomatological Disease Diagnosis and Treatment Xiamen China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,11,20]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13030536"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkp674"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1155\/2014\/175721"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201640"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41439-022-00186-w"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2024.104911"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.70140"},{"key":"e_1_2_10_9_1","volume-title":"GeneReviews\u00ae","author":"Sutton V. 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