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Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas
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Document Title
Heterozygous Variants in FREM2 Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas
Author
Kantaputra P.N., Tripuwabhrut K., Anthonappa R.P., Chintakanon K., Ngamphiw C., Adisornkanj P., Porntrakulseree N., Olsen B., Intachai W., Hennekam R.C., Vieira A.R., Tongsima S.
Affiliations
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; Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, 50200, Thailand; Department of Pediatric Dentistry, University of Western Australia Dental School, Nedlands, WA 6009, Australia; National Biobank of Thailand, National Science and Technology Development Agency, Khlong Luang12120, Thailand; Dental Department, Sawang Daen Din Crown Prince Hospital, Sakon Nakhon, 47110, Thailand; Dental Department, Lumphun Hospital, Lumphum, 51000, Thailand; Department of Developmental Biology, Harvard School of Dental Medicine, Harvard University, Boston, MA 02115, United States; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1105 AZ, Netherlands; Department of Oral and Craniofacial Sciences, School of Dental Medicine, University of Pittsburgh, Pittsburgh, PA 15213, United States
Type
Article
Source Title
Diagnostics
ISSN
20754418
Year
2023
Volume
13
Issue
7
Page
-
Open Access
All Open Access, Gold, Green
Publisher
MDPI
DOI
10.3390/diagnostics13071214
Format
Abstract
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. © 2023 by the authors.
Publication Source
WOS