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一个三代家族中少牙症的病因学评估。

Aetiological Evaluation of Oligodontia in a Three-Generation Family.

作者信息

Ergün Sezen Güntekin, Tuncer Burcu Baloş, Ergün Mehmet Ali, Kolbaşı Guyem, Orhan Metin, Perçin Ferda E

出版信息

Oral Health Prev Dent. 2020 Jul 4;18(2):271-275. doi: 10.3290/j.ohpd.a44033.

DOI:10.3290/j.ohpd.a44033
PMID:32618450
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11654614/
Abstract

PURPOSE: The aim of this study was to assess the genetic evaluation of a three-generation consanguineous family with isolated oligodontia. MATERIALS AND METHODS: A 16-year-old male patient who had been referred for orthodontic treatment due to the presence of oligodontia, and his family members who presented several missing teeth had been enrolled in the study. Clinical and radiological assessments and genetic analysis including whole-exome sequencing were performed. RESULTS: Genetic evaluations revealed both homozygous and heterozygous mutations (c.T682A:p.F228I) in the WNT10A gene of six affected members of the family. Higher frequency of agenesis of mandibular second molar was found in homozygous relative to heterozygous WNT10A mutations. CONCLUSION: The present findings have provided evidence for a known variant in the WNT10A gene in a three-generation consanguineous family with isolated oligodontia, while the results confirmed that cases with homozygous mutation revealed clinical heterogeneity.

摘要

目的：本研究旨在评估一个患有孤立性少牙症的三代近亲家庭的基因情况。 材料与方法：一名因少牙症前来接受正畸治疗的16岁男性患者及其有几颗牙齿缺失的家庭成员参与了本研究。进行了临床和放射学评估以及包括全外显子组测序在内的基因分析。 结果：基因评估发现该家族六名受影响成员的WNT10A基因存在纯合和杂合突变（c.T682A:p.F228I）。相对于WNT10A基因杂合突变，纯合突变患者下颌第二磨牙缺失的频率更高。 结论：本研究结果为一个患有孤立性少牙症的三代近亲家庭中WNT10A基因的已知变异提供了证据，同时结果证实纯合突变病例存在临床异质性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3286/11654614/1b31c2fc030f/ohpd-18-2-271-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3286/11654614/b592a2e40625/ohpd-18-2-271-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3286/11654614/1b31c2fc030f/ohpd-18-2-271-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3286/11654614/b592a2e40625/ohpd-18-2-271-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3286/11654614/1b31c2fc030f/ohpd-18-2-271-g002.jpg

相似文献

[1]
Aetiological Evaluation of Oligodontia in a Three-Generation Family.

Oral Health Prev Dent. 2020-7-4

[2]
Mutation analysis by direct and whole exome sequencing in familial and sporadic tooth agenesis.

Int J Mol Med. 2016-11

[3]
Prevalence of WNT10A gene mutations in non-syndromic oligodontia.

Clin Oral Investig. 2018-11-14

[4]
WNT10A mutations causing oligodontia.

Arch Oral Biol. 2019-5-9

[5]
Role of WNT10A in failure of tooth development in humans and zebrafish.

Mol Genet Genomic Med. 2017-11

[6]
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Am J Med Genet A. 2014-2

[7]
Phenotypic characteristics of taurodontism and a novel WNT10A variant in non-syndromic oligodontia family.

Arch Oral Biol. 2023-10

[8]
Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency.

BMC Med Genet. 2016-11-24

[9]
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.

Arch Oral Biol. 2013-1-11

[10]
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet. 2015-10-1

引用本文的文献

[1]
Dental Anomalies in Consanguineous Marriage: A Clinical-Radiological Study.

Int Dent J. 2022-2

本文引用的文献

[1]
Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Oral Dis. 2018-7-23

[2]
WNT10A mutation results in severe tooth agenesis in a family of three sisters.

Orthod Craniofac Res. 2018-6-21

[3]
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.

J Dent Res. 2018-1

[4]
Dental and extra-oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype-phenotype study.

Clin Genet. 2017-3-19

[5]
The association between WNT10A variants and dental development in patients with isolated oligodontia.

Eur J Hum Genet. 2016-1

[6]
Mutations in WNT10B Are Identified in Individuals with Oligodontia.

Am J Hum Genet. 2016-7-7

[7]
Novel missense mutation in the EDA gene in a family affected by oligodontia.

J Orofac Orthop. 2016-1

[8]
Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Am J Hum Genet. 2015-10-1

[9]
MutationTaster2: mutation prediction for the deep-sequencing age.

Nat Methods. 2014-4

[10]
WNT10A mutations account for ¼ of population-based isolated oligodontia and show phenotypic correlations.

Am J Med Genet A. 2014-2

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