{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T23:10:45Z","timestamp":1790377845878,"version":"4.1.0"},"reference-count":49,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T00:00:00Z","timestamp":1693353600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2024,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Familial gigantiform cementoma (FGC) is a rare tumor characterized by the early onset of multi\u2010quadrant fibro\u2010osseous lesions in the jaws, causing severe maxillofacial deformities. Its clinicopathological features overlap with those of other benign fibro\u2010osseous lesions. FGC eventually exhibits progressively rapid growth, but no suspected causative gene has been identified.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In this study, three patients with FGC were recruited, and genomic DNA from the tumor tissue and peripheral blood was extracted for whole\u2010exome sequencing.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Results showed that all three patients harbored the heterozygous mutation c.1067G\u2009&gt;\u2009A (p.Cys356Tyr) in the <jats:italic>ANO5<\/jats:italic> gene. Furthermore, autosomal dominant mutations in <jats:italic>ANO5<\/jats:italic> at this locus have been identified in patients with gnathodiaphyseal dysplasia (GDD) and are considered a potential causative agent, suggesting a genetic association between FGC and GDD. In addition, multifocal fibrous bone lesions with similar clinical presentations were detected, including five cases of florid cemento\u2010osseous dysplasia, five cases of polyostotic fibrous dysplasia, and eight cases of juvenile ossifying fibromas; however, none of them harbored mutations in the <jats:italic>ANO5<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our findings indicate that FGC may be an atypical variant of GDD, providing evidence for the feasibility of <jats:italic>ANO5<\/jats:italic> gene testing as an auxiliary diagnostic method for complex cases with multiple quadrants.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2277","type":"journal-article","created":{"date-parts":[[2023,8,31]],"date-time":"2023-08-31T05:38:55Z","timestamp":1693460335000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Familial gigantiform cementoma with recurrent <scp>ANO5<\/scp> p.<scp>Cys356Tyr<\/scp> mutations: Clinicopathological and genetic study with literature review"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7480-6400","authenticated-orcid":false,"given":"Zheng","family":"Zhou","sequence":"first","affiliation":[{"name":"Department of Oral Pathology Peking University School and Hospital of Stomatology  Beijing P.R. 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