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孤立性少牙症患者中WNT10A基因变异与牙齿发育之间的关联

The association between WNT10A variants and dental development in patients with isolated oligodontia.

作者信息

Dhamo Brunilda, Fennis Willem, Créton Marijn, Vucic Strahinja, Cune Marco, Ploos van Amstel Hans Kristian, Wolvius Eppo B, van den Boogaard Marie-José, Ongkosuwito Edwin M

机构信息

Department of Oral & Maxillofacial Surgery, Special Dental Care and Orthodontics, Erasmus University Medical Centre, Rotterdam, The Netherlands.

Department of Epidemiology, The Generation R Study Group, Erasmus University Medical Centre, Rotterdam, The Netherlands.

出版信息

Eur J Hum Genet. 2016 Jan;25(1):59-65. doi: 10.1038/ejhg.2016.117. Epub 2016 Sep 21.


DOI:10.1038/ejhg.2016.117
PMID:27650966
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5159758/
Abstract

In this study we aimed to determine the effect of WNT10A variants on dental development in patients with oligodontia. Forty-three (25 boys and 18 girls) individuals were eligible for this study. Stage of development for each present tooth was assessed using the Demirjian method. In case no corresponding tooth was present, regression equations were applied for dental age to be calculated. The ratio between length of root and length of crown was ascertained for each present tooth in all quadrants. All patients were physically examined by a clinical geneticist and DNA analysis of the WNT10A gene was performed. Linear regression models were applied to analyze the association between WNT10A variants and dental age. The same analysis was applied to study the association between WNT10A variants and root elongation for each present tooth. One ordinal regression model was applied to analyze the association between WNT10A variants and development of present maxillary and mandibular teeth. Thirty-six (84%) patients were detected with WNT10A variants of which six patients displayed evident ectodermal features. Dental age was 1.50 (95% confidence interval (CI): -2.59, -0.42) to 1.96 (95% CI: -3.76, -0.17) years lower in patients with WNT10A variants compared with patients without variants. The development of maxillary canine, maxillary second molar and mandibular second molar was statistically significantly delayed in patients with WNT10A variants compared with patients without variants. The impact of WNT10A variants on dental development increases with presence of the nonsense c.(321C>A p.(C107*)) variant and the number of missing teeth.

摘要

在本研究中,我们旨在确定WNT10A基因变异对少牙症患者牙齿发育的影响。43名个体(25名男孩和18名女孩)符合本研究条件。使用德米尔坚方法评估每颗现存牙齿的发育阶段。如果没有相应的牙齿,则应用回归方程计算牙龄。确定所有象限中每颗现存牙齿的牙根长度与牙冠长度之比。所有患者均由临床遗传学家进行体格检查,并对WNT10A基因进行DNA分析。应用线性回归模型分析WNT10A基因变异与牙龄之间的关联。采用相同的分析方法研究WNT10A基因变异与每颗现存牙齿牙根伸长之间的关联。应用一个有序回归模型分析WNT10A基因变异与现存上颌和下颌牙齿发育之间的关联。36名(84%)患者检测到WNT10A基因变异,其中6名患者表现出明显的外胚层特征。与无基因变异的患者相比,有WNT10A基因变异的患者牙龄低1.50(95%置信区间(CI):-2.59,-0.42)至1.96(95%CI:-3.76,-0.17)岁。与无基因变异的患者相比,有WNT10A基因变异的患者上颌尖牙、上颌第二磨牙和下颌第二磨牙的发育在统计学上显著延迟。WNT10A基因变异对牙齿发育的影响随着无义c.(321C>A p.(C107*))变异的存在和缺失牙齿的数量而增加。

相似文献

[1]
The association between WNT10A variants and dental development in patients with isolated oligodontia.

Eur J Hum Genet. 2016-1

[2]
Role of WNT10A in failure of tooth development in humans and zebrafish.

Mol Genet Genomic Med. 2017-11

[3]
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Am J Med Genet A. 2014-2

[4]
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

BMC Med Genet. 2016-11-24

[5]
Distinct impacts of bi-allelic WNT10A mutations on the permanent and primary dentitions in odonto-onycho-dermal dysplasia.

Am J Med Genet A. 2018-12-20

[6]
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Hum Genet. 2013-9-17

[7]
Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2018-11-14

[8]
Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.

Arch Oral Biol. 2023-10

[9]
Nucleotide variants of genes encoding components of the Wnt signalling pathway and the risk of non-syndromic tooth agenesis.

Clin Genet. 2012-12-7

[10]
WNT10B mutations associated with isolated dental anomalies.

Clin Genet. 2018-3-2

引用本文的文献

[1]
Bimaxillary fixed implant-supported zirconium oxide prosthesis therapy of an adolescent patient with non-syndromic oligodontia and two WNT10 variants: a case report.

Ann Med Surg (Lond). 2024-3-19

[2]
The Quebec Dental Anomalies Registry: Identifying genes for rare disorders.

PNAS Nexus. 2023-6-14

[3]
Dose Dependence Effect in Biallelic Variant-Associated Tooth Agenesis Phenotype.

Diagnostics (Basel). 2022-12-7

[4]
Aetiological Evaluation of Oligodontia in a Three-Generation Family.

Oral Health Prev Dent. 2020-7-4

[5]
Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2018-11-14

本文引用的文献

[1]
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet. 2015-10-1

[2]
Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Mol Genet Genomic Med. 2015-1

[3]
Wntless regulates dentin apposition and root elongation in the mandibular molar.

J Dent Res. 2015-3

[4]
Prevalence of hypodontia and associated factors: a systematic review and meta-analysis.

J Orthod. 2014-12

[5]
Reliability and validity of five radiographic dental-age estimation methods in a population of Malaysian children.

J Investig Clin Dent. 2016-2

[6]
Maturation of teeth adjacent to dental agenesis site.

Acta Odontol Scand. 2014-10

[7]
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Am J Med Genet A. 2014-2

[8]
WNT10A variants are associated with non-syndromic tooth agenesis in the general population.

Hum Genet. 2013-9-17

[9]
Candidate gene analysis of tooth agenesis identifies novel mutations in six genes and suggests significant role for WNT and EDA signaling and allele combinations.

PLoS One. 2013-8-22

[10]
The impact of tooth agenesis on oral health-related quality of life in children.

J Orthod. 2013-6

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