{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T00:21:08Z","timestamp":1778545268592,"version":"3.51.4"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,10,30]],"date-time":"2018-10-30T00:00:00Z","timestamp":1540857600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"The 13th five-year plan of Stomatological Hospital of Tianjin Medical University","award":["3004"],"award-info":[{"award-number":["3004"]}]},{"name":"The Key Project for Tianjin Health Industry","award":["15KG139"],"award-info":[{"award-number":["15KG139"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>To investigate a novel gene mutation in a Chinese patient with non\u2010syndromic hypodontia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Subjects and Methods<\/jats:title><jats:p>Mutation analysis was carried out by whole exome sequencing. Bioinformatics tools were used for the biophysical predictions of the mutative protein. Luciferase reporter assay was performed to analyse the effects of mutation on protein function. <jats:italic>PAX9<\/jats:italic> and <jats:italic>BMP4<\/jats:italic> gene expression from mutant cells was detected by qRT\u2010PCR.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>A novel heterozygous mutation (c.G1057A) was detected in the patient but was not found in the controls. The novel missense mutation led to a Val111Met substitution in the paired box domain which was completely conserved evolutionarily, as analysed by dbNSFP. The mutation was predicted to be disease\u2010causing and harmful using MutationTaster and CADD, respectively. Protean of Lasergene showed that this mutation may lead to \u03b2\u2010region shortening in the mutant protein compared to the wild type. Luciferase reporter assay indicated that the mutated protein reduced the transactivation activity of PAX9. This mutation led to increased levels of <jats:italic>PAX9<\/jats:italic> transcript and reduced levels of <jats:italic>BMP4<\/jats:italic> transcript, likely due to compensatory activation and lower transactivation activity of mutant PAX9.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This novel mutation (c.G1057A) in <jats:italic>PAX9<\/jats:italic> caused hypodontia by altering <jats:italic>PAX9<\/jats:italic> gene function and downregulating <jats:italic>BMP4<\/jats:italic> gene expression.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.12982","type":"journal-article","created":{"date-parts":[[2018,9,26]],"date-time":"2018-09-26T14:09:06Z","timestamp":1537970946000},"page":"234-241","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel <i>PAX9 <\/i>mutation found in a Chinese patient with hypodontia via whole exome 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