Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.

IF 3.8 2区生物学 Q2 GENETICS & HEREDITY

Human Genetics Pub Date : 2024-11-01 Epub Date: 2024-09-25 DOI:10.1007/s00439-024-02705-x

Youmei Wu, Ling Lai, Junyang Chen, Xinzhu Li, Jin Hou

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引用次数: 0

Abstract

Tooth agenesis (TA) occurs when tooth development is disrupted at the initiation stage. It can be classified into non-syndromic and syndromic forms (named NSTA and STA), depending on whether it is accompanied by abnormalities of other organs and systems. Genetic factors play a predominant role in the pathogenesis of tooth agenesis, with dozens of genes implicated in both forms. Several genes have been identified, mutations in which can lead to both forms of TA. Among these, WNT10A and EDA are frequently mutated genes in this context, representing extensively researched and documented genes in human non-syndromic selective agenesis of permanent teeth and their association with ectodermal dysplasia syndromes. In this review, we present an overview of the current knowledge regarding genes associated with NSTA and STA, focusing on the distribution and nature of WNT10A and EDA gene mutations. We also explore how these mutations relate to the condition's both forms, including their association with the number of missing permanent teeth.

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牙齿缺失的基因型和表型相关性：综合征和非综合征中 WNT10A 和 EDA 基因突变的启示。

牙齿发育不全（TA）是指牙齿发育在起始阶段中断。根据是否伴有其他器官和系统的异常，可将其分为非综合征型和综合征型（命名为 NSTA 和 STA）。遗传因素在牙齿缺失症的发病机制中起着主要作用，有数十个基因与这两种形式的牙齿缺失症有关。目前已发现几个基因，其突变可导致两种形式的 TA。在这些基因中，WNT10A 和 EDA 是经常发生突变的基因，它们是在人类非综合征选择性恒牙缺失及其与外胚层发育不良综合征的关联中被广泛研究和记录的基因。在这篇综述中，我们概述了与 NSTA 和 STA 相关基因的现有知识，重点是 WNT10A 和 EDA 基因突变的分布和性质。我们还探讨了这些基因突变与这两种病症的关系，包括它们与恒牙缺失数量的关系。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Genetics 生物-遗传学

CiteScore

10.80

自引率

3.80%

发文量

审稿时长

1 months

期刊介绍： Human Genetics is a monthly journal publishing original and timely articles on all aspects of human genetics. The Journal particularly welcomes articles in the areas of Behavioral genetics, Bioinformatics, Cancer genetics and genomics, Cytogenetics, Developmental genetics, Disease association studies, Dysmorphology, ELSI (ethical, legal and social issues), Evolutionary genetics, Gene expression, Gene structure and organization, Genetics of complex diseases and epistatic interactions, Genetic epidemiology, Genome biology, Genome structure and organization, Genotype-phenotype relationships, Human Genomics, Immunogenetics and genomics, Linkage analysis and genetic mapping, Methods in Statistical Genetics, Molecular diagnostics, Mutation detection and analysis, Neurogenetics, Physical mapping and Population Genetics. Articles reporting animal models relevant to human biology or disease are also welcome. Preference will be given to those articles which address clinically relevant questions or which provide new insights into human biology. Unless reporting entirely novel and unusual aspects of a topic, clinical case reports, cytogenetic case reports, papers on descriptive population genetics, articles dealing with the frequency of polymorphisms or additional mutations within genes in which numerous lesions have already been described, and papers that report meta-analyses of previously published datasets will normally not be accepted. The Journal typically will not consider for publication manuscripts that report merely the isolation, map position, structure, and tissue expression profile of a gene of unknown function unless the gene is of particular interest or is a candidate gene involved in a human trait or disorder.