{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,23]],"date-time":"2026-04-23T03:47:42Z","timestamp":1776916062431,"version":"3.51.2"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T00:00:00Z","timestamp":1614038400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T00:00:00Z","timestamp":1614038400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genomics"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Cleft lip with or without cleft palate (CL\/P) is the most common craniofacial anomaly with a high incidence of live births. The specific pathogenesis of CL\/P is still unclear, although plenty of studies have been conducted. Variations of tumor protein 63 (<jats:italic>TP63<\/jats:italic>) was reported to be related to the phenotype of CL\/P. The case discussed in this report involves a pedigree with mutation at<jats:italic>TP63<\/jats:italic>gene, and the variation was not reported before.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case presentation<\/jats:title><jats:p>A Chinese pedigree with CL\/P was collected in this study. The proband is a 3-year-old boy with the phenotype of CL\/P, while his global development and intelligence are normal. After two CL\/P repair operations, he looks almost normal. The proband's uncle and grandmother both have the phenotype of CL\/P. Cytogenetic analysis and chromosomal microarray analysis (CMA) were performed, followed by whole exome sequencing (WES) and sanger validation. Analysis of WES revealed a variant of C&gt;T at nucleotide position 1324 (1324C&gt;T) of<jats:italic>TP63<\/jats:italic>gene, possibly producing a truncated protein with a premature stop codon at amino acid position 442 (p.Q442*). This mutation was localized at the oligomerization domain (OD) of<jats:italic>TP63<\/jats:italic>and might impair the capacity of p63 oligomerization.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The mutation in<jats:italic>TP63<\/jats:italic>was recognized to be the possible cause of the phenotype of CL\/P in this pedigree. This report provides some evidence for the clinical diagnosis of CL\/P. And our study also provides clinical evidence for the molecular mechanism of<jats:italic>TP63<\/jats:italic>gene causing nonsyndromic cleft lip with or without cleft palate (NSCL\/P).<\/jats:p><\/jats:sec>","DOI":"10.1186\/s12920-021-00903-4","type":"journal-article","created":{"date-parts":[[2021,2,23]],"date-time":"2021-02-23T13:03:23Z","timestamp":1614085403000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Identification of a novel TP63 mutation causing nonsyndromic cleft lip with or without cleft palate"],"prefix":"10.1186","volume":"14","author":[{"given":"Tianhui","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mengmeng","family":"Du","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinhua","family":"Bu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donglan","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhiping","family":"Gu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuefang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiao","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8536-0288","authenticated-orcid":false,"given":"Chunyan","family":"Jin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2021,2,23]]},"reference":[{"issue":"9703","key":"903_CR1","doi-asserted-by":"publisher","first-page":"1773","DOI":"10.1016\/S0140-6736(09)60695-4","volume":"374","author":"PA Mossey","year":"2009","unstructured":"Mossey PA, Little J, Munger RG, Dixon MJ, Shaw WC. 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Written informed consent to participate was obtained from all the participants. The proband in this study is under the age of 16, and a written informed consent to participate was obtained from his legal guardians.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent for publication of identifying images or other personal or clinical details was obtained from all the participants or legal guardians of the proband who is under the age of 18.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that there are no competing interests regarding the manuscript.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"53"}}