Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.

Autor: Kantaputra PN; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Tripuwabhrut K; Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Anthonappa RP; Department of Pediatric Dentistry, University of Western Australia Dental School, Nedlands, WA 6009, Australia., Chintakanon K; Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Ngamphiw C; National Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang 12120, Thailand., Adisornkanj P; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.; Division of Pediatric Dentistry, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand.; Dental Department, Sawang Daen Din Crown Prince Hospital, Sakon Nakhon 47110, Thailand., Porntrakulseree N; Dental Department, Lumphun Hospital, Lumphum 51000, Thailand., Olsen B; Department of Developmental Biology, Harvard School of Dental Medicine, Harvard University, Boston, MA 02115, USA., Intachai W; Center of Excellence in Medical Genetics Research, Faculty of Dentistry, Chiang Mai University, Chiang Mai 50200, Thailand., Hennekam RC; Department of Pediatrics, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands., Vieira AR; Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA., Tongsima S; National Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang 12120, Thailand.
Jazyk: angličtina
Zdroj: Diagnostics (Basel, Switzerland) [Diagnostics (Basel)] 2023 Mar 23; Vol. 13 (7). Date of Electronic Publication: 2023 Mar 23.
DOI: 10.3390/diagnostics13071214
Abstrakt: 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.
Databáze: MEDLINE
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