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[基因名称]中的杂合变异与正中多生牙、额外牙、口腔外生骨疣和牙瘤有关。 （注：原文中“Are Associated with”前缺少具体基因名称，这里用[基因名称]表示需根据实际情况补充完整的部分 ）

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

作者信息

Kantaputra Piranit Nik, Tripuwabhrut Kanich, Anthonappa Robert P, Chintakanon Kanoknart, Ngamphiw Chumpol, Adisornkanj Ploy, Porntrakulseree Nop, Olsen Bjorn, Intachai Worrachet, Hennekam Raoul C, Vieira Alexandre R, Tongsima Sissades

机构信息

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.

出版信息

Diagnostics (Basel). 2023 Mar 23;13(7):1214. doi: 10.3390/diagnostics13071214.

DOI:10.3390/diagnostics13071214
PMID:37046432
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10093539/
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 in eight patients with extra tooth phenotypes. CONCLUSIONS: Biallelic variants in are implicated in autosomal recessive Fraser syndrome with or without dental anomalies. Here, we report for the first time that heterozygous carriers of variants have phenotypes including oral exostoses, mesiodens, and isolated supernumerary teeth.

摘要

背景：额外牙是指超过正常牙列数量的多余牙齿。正中多生牙是额外牙的一种特殊形式，位于上颌前部区域。本研究的目的是调查额外牙表型的遗传病因，包括正中多生牙和孤立性额外牙。 方法：对我们队列中的122例患者进行了口腔和影像学检查以及全外显子测序，其中包括27例孤立性额外牙患者和94例正中多生牙患者。一名有多颗额外牙的患者还患有牙瘤。 结果：我们在8例有额外牙表型的患者中鉴定出一个新的（c.8498A>G；p.Asn2833Ser）和六个复发性（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，以及c.850G>C；p.Val284Leu）杂合错义变异。 结论：双等位基因变异与伴有或不伴有牙齿异常的常染色体隐性弗雷泽综合征有关。在此，我们首次报告变异的杂合携带者具有包括口腔外生骨疣、正中多生牙和孤立性额外牙在内的表型。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/065cac3b89a9/diagnostics-13-01214-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/076bc3a78d67/diagnostics-13-01214-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/5b5c583ae2c9/diagnostics-13-01214-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/276cf3419a0d/diagnostics-13-01214-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/e7b83dc61225/diagnostics-13-01214-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/ca537281d824/diagnostics-13-01214-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/590561bb2cd2/diagnostics-13-01214-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/065cac3b89a9/diagnostics-13-01214-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/076bc3a78d67/diagnostics-13-01214-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/5b5c583ae2c9/diagnostics-13-01214-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/276cf3419a0d/diagnostics-13-01214-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/e7b83dc61225/diagnostics-13-01214-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/ca537281d824/diagnostics-13-01214-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/590561bb2cd2/diagnostics-13-01214-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b67/10093539/065cac3b89a9/diagnostics-13-01214-g007.jpg

相似文献

[1]
Heterozygous Variants in Are Associated with Mesiodens, Supernumerary Teeth, Oral Exostoses, and Odontomas.

Diagnostics (Basel). 2023-3-23

[2]
Rare Genetic Variants in Human Are Implicated in Mesiodens and Isolated Supernumerary Teeth.

Int J Mol Sci. 2023-2-21

[3]
Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies.

Arch Oral Biol. 2022-10

[4]
Genetic Variants in Protein Tyrosine Phosphatase Non-Receptor Type 23 Are Responsible for Mesiodens Formation.

Biology (Basel). 2023-3-1

[5]
Rare Variants in Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans.

Biology (Basel). 2023-1-30

[6]
Fusion of Unerupted Mesiodens with a Regular Maxillary Central Incisor: a Diagnostic and Therapeutic Challenge.

Acta Stomatol Croat. 2021-9

[7]
Endodontic Treatment for a Mesiodens: A Case Report.

Cureus. 2024-4-10

[8]
Rare association of dens invaginatus with impacted mesiodens - A case report.

J Oral Biol Craniofac Res. 2012

[9]
Mirror imaging of impacted and supernumerary teeth in dizygotic twins: A case report.

J Clin Exp Dent. 2015-2-1

[10]
Supernumerary teeth "mesiodens". Case report.

Minerva Stomatol. 2003-9

引用本文的文献

[1]
Genetic Variants in KIF7 May Contribute to Supernumerary Tooth Formation.

Int Dent J. 2025-8-6

[2]
Endoscopic Surgical Approach for a Mesiodens in the Nasal Cavity: A Rare Phenomenon.

Reports (MDPI). 2024-6-13

[3]
Symmetrically Erupted Upper Fourth Molars and an Impacted Fifth Molar: A Case Report.

Case Rep Dent. 2025-7-4

[4]
Genetic Variants in Are Associated with Isolated Dental Anomalies.

Int J Mol Sci. 2024-5-9

本文引用的文献

[1]
Rare Variants in Are Associated with Mesiodens, Root Maldevelopment, and Oral Exostoses in Humans.

Biology (Basel). 2023-1-30

[2]
DKK1 is a strong candidate for mesiodens and taurodontism.

Clin Genet. 2023-6

[3]
Mutations in the WLS are associated with dental anomalies, torus palatinus, and torus mandibularis.

Eur J Orthod. 2023-5-31

[4]
Identification of a novel missense mutation in non-syndromic familial multiple supernumerary teeth.

Arch Oral Biol. 2022-11

[5]
Mutations in LRP6 highlight the role of WNT signaling in oral exostoses and dental anomalies.

Arch Oral Biol. 2022-10

[6]
Mutations in LRP5 and BMP4 are associated with mesiodens, tooth agenesis, root malformation, and oral exostoses.

Clin Genet. 2022-10

[7]
Cryptophthalmos, dental anomalies, oral vestibule defect, and a novel FREM2 mutation.

J Hum Genet. 2022-2

[8]
Assessment of Genetical, Pre, Peri and Post Natal Risk Factors of Deciduous Molar Hypomineralization (DMH), Hypomineralized Second Primary Molar (HSPM) and Molar Incisor Hypomineralization (MIH): A Narrative Review.

Children (Basel). 2021-5-21

[9]
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.

Am J Med Genet A. 2020-7

[10]
Impaired dentin mineralization, supernumerary teeth, hypoplastic mandibular condyles with long condylar necks, and a TRPS1 mutation.

Arch Oral Biol. 2020-5-5

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