期刊
DIAGNOSTICS
卷 13, 期 7, 页码 -出版社
MDPI
DOI: 10.3390/diagnostics13071214
关键词
dental anomalies; extra teeth; Fraser syndrome; supernumerary tooth; tooth formation; mesiodens; mesiodentes
This study aimed to investigate the genetic etiology of extra tooth phenotypes, including mesiodens and isolated supernumerary teeth. Through oral and radiographic examinations and whole-exome sequencing, seven out of eight patients were identified with heterozygous missense variants in FREM2. These findings suggest that mutations in FREM2 are associated with extra tooth phenotypes.
Background: Supernumerary teeth refer to extra teeth that exceed the usual number of dentitions. A mesiodens is a particular form of supernumerary tooth, which is located in the premaxilla region. The objective of the study was to investigate the genetic etiology of extra tooth phenotypes, including mesiodens and isolated supernumerary teeth. Methods: Oral and radiographic examinations and whole-exome sequencing were performed on every patient in our cohort of 122 patients, including 27 patients with isolated supernumerary teeth and 94 patients with mesiodens. A patient who had multiple supernumerary teeth also had odontomas. Results: We identified a novel (c.8498A>G; p.Asn2833Ser) and six recurrent (c.1603C>T; p.Arg535Cys, c.5852G>A; p.Arg1951His, c.6949A>T; p.Thr2317Ser; c.1549G>A; p.Val517Met, c.1921A>G; p.Thr641Ala, and c.850G>C; p.Val284Leu) heterozygous missense variants in FREM2 in eight patients with extra tooth phenotypes. Conclusions: Biallelic variants in FREM2 are implicated in autosomal recessive Fraser syndrome with or without dental anomalies. Here, we report for the first time that heterozygous carriers of FREM2 variants have phenotypes including oral exostoses, mesiodens, and isolated supernumerary teeth.
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