Research progress on selective tooth agenesis caused by LRP6 gene mutation
10.12016/j.issn.2096-1456.2023.03.012
- Author:
JIANG Cailing
1
,
2
;
ZHAO Bin
3
;
WU Yiqun
2
,
4
Author Information
1. 1.School of Stomatology Affiliated to Shanxi Medical University 2.The Second Department of Stomatology, the Ninth People'
2. s Hospital affiliated to Shanghai Jiao Tong University School of Medicine
3. School of Stomatology Affiliated to Shanxi Medical University
4. The Second Department of Stomatology, the Ninth People'
- Publication Type:Review
- Keywords:
low-density lipoprotein receptor-related protein 6 gene / selected tooth agenesis / syndrome tooth agenesis / non-syndrome tooth agenesis / oligodontia / hypodontia / phenotype / gene mutation
- From:
Journal of Prevention and Treatment for Stomatological Diseases
2023;31(3):223-228
- CountryChina
- Language:Chinese
-
Abstract:
Selective tooth agenesis (STA) is an abnormal number of teeth due to genetic factors or the environment and is most commonly observed for permanent teeth. LRP6 is one of the common causative genes of STA and is inherited by an autosomal dominant mechanism, leading to non-syndrome tooth agenesis (NSTA) or syndrome tooth agenesis (STA). NSTA is only involved in tooth number and appearance abnormalities, whereas STA caused by LRP6 gene mutation results abnormal ear development, oral-facial clefting, sparse hair and hypohidrosis. In this paper, we review the phenotype and gene mutation traits of selective STA caused by LRP6 gene mutation identified in recent years and describe 38 patients with tooth agenesis from 24 mutation sites of LRP6 gene. We analyzed the percentage of missing teeth and found that the lateral incisor in the maxilla and the second premolar in the maxilla and mandible were most commonly lost, whereas all central incisors in the maxilla remained. LRP6 gene plays a major role in tooth development via the WNT/β-catenin signaling pathway, and LRP6 gene mutation can lead to a series of abnormal manifestations due to the disruption of the signaling pathway. The literature showed that LRP6 gene mutations occurred mostly at the E1 or E2 subdomain, meaning that STA due to the mutants extracellularly disturbed the WNT/β-catenin signaling pathway. However, mature treatments for selective congenital tooth loss are lacking.
- Full text:LRP6基因突变导致选择性先天缺牙的研究进展.pdf
