{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:45:56Z","timestamp":1786977956152,"version":"build-2736575974"},"reference-count":30,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T00:00:00Z","timestamp":1567123200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100012476","name":"Fundamental Research Funds for Central Universities of the Central South University","doi-asserted-by":"publisher","award":["XCX20190747"],"award-info":[{"award-number":["XCX20190747"]}],"id":[{"id":"10.13039\/501100012476","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012476","name":"Fundamental Research Funds for Central Universities of the Central South University","doi-asserted-by":"publisher","award":["2019zzts048"],"award-info":[{"award-number":["2019zzts048"]}],"id":[{"id":"10.13039\/501100012476","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81370394"],"award-info":[{"award-number":["81370394"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Gene Medicine"],"published-print":{"date-parts":[[2019,10]]},"abstract":"Abstract<\/jats:title>\n \n Background<\/jats:title>\n \n Tumor protein p63 (TP63)\u2010related disorders can be divided into at least six categories, including ectrodactyly\u2010ectodermal dysplasia\u2010cleft lip\/palate syndrome 3 (EEC syndrome 3), ankyloblepharon\u2010ectodermal defects\u2010cleft lip\/palate syndrome (AEC syndrome), acro\u2010dermo\u2010ungual\u2010lacrimal\u2010tooth syndrome (ADULT syndrome), limb\u2010mammary syndrome (LMS), Rapp\u2013Hodgkin syndrome (RHS) and split\u2010hand\/foot malformation 4 (SHFM4), and are all a result of heterozygous mutations of\n TP63<\/jats:italic>\n . The phenotypes of TP63\u2010related disorders broadly involve ectodermal dysplasias, acromelic malformation and orofacial cleft. SHFM and hypodontia are prominent clinical manifestations of TP63\u2010related disorders.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n The present study investigated a family with SHFM and hypodontia; determined the sequences of\n DLX5<\/jats:italic>\n ,\n WNT8B<\/jats:italic>\n ,\n WNT10B<\/jats:italic>\n ,\n BHLHA9<\/jats:italic>\n ,\n CDH3<\/jats:italic>\n ,\n DYNC1I1<\/jats:italic>\n and\n FGFR1<\/jats:italic>\n ; and performed single nucleotide polymorphism\u2010array analysis. We detected the mutation by multiple sequence alignments and a bioinformatic prediction.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n We identified a novel missense mutation of\n TP63<\/jats:italic>\n (c.1010G>T; R337L) in the family without mutations of\n DLX5<\/jats:italic>\n ,\n WNT8B<\/jats:italic>\n ,\n WNT10B<\/jats:italic>\n ,\n BHLHA9<\/jats:italic>\n ,\n CDH3<\/jats:italic>\n ,\n DYNC1I1<\/jats:italic>\n ,\n FGFR1<\/jats:italic>\n and copy number variants causing SHFM.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n A mutation of\n TP63<\/jats:italic>\n (c.1010G>T; R337L) leads to SHFM with hypodontia. The identification of this mutation expands the spectrum of known\n TP63<\/jats:italic>\n mutations and also may contribute to novel approaches for the genetic diagnosis and counseling of families with TP63\u2010related disorders.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/jgm.3122","type":"journal-article","created":{"date-parts":[[2019,8,17]],"date-time":"2019-08-17T03:04:18Z","timestamp":1566011058000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["A novel mutation (c.1010G>T; p.R337L) in\n TP63<\/i>\n as a cause of split\u2010hand\/foot malformation with hypodontia"],"prefix":"10.1002","volume":"21","author":[{"given":"Jie\u2010Yuan","family":"Jin","sequence":"first","affiliation":[{"name":"School of Life Sciences Central South University Changsha China"},{"name":"Department of Orthopaedics Xiangya Hospital of Central South University Changsha 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