ArticleJournal of dental research2018
Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis.
Article in Journal of dental research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
43 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
- Molecular plasticity of LAMA3 across the disease spectrum: pathogenic mechanisms and clinical translation.Histochemistry and cell biology · 2026Pooled it
- [Whole genome sequencing and analysis of familial nonsyndromic congenital tooth agenesis].Hua xi kou qiang yi xue za zhi = Huaxi kouqiang yixue zazhi = West China journal of stomatology · 2026Article
- Dissecting the Genetic Contribution of Tooth Agenesis.International journal of molecular sciences · 2025Review
- Genetic-environmental Risk Factors for Tooth Agenesis: A Familial Case-control Study in China.International dental journal · 2025Article
- Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.Genes · 2025Article
- Identification and Functional Analysis of Novel Mutations in AXIN2 and LRP6 Linked With Non-Syndromic Tooth Agenesis.Molecular genetics & genomic medicine · 2025Article
- Identifying six single nucleotide variants in the COL17A1 gene that alter RNA splicing: database analysis and minigene assays.Scientific reports · 2025Article
- Dental Implant Rehabilitation in Patients Carrying WNT10A Mutations With Different Molecular Statuses and Phenotypes: A Retrospective Cohort Study.Clinical oral implants research · 2025Article
- Genotype-phenotype analysis and functional study of three novelFrontiers in genetics · 2025Article
- Main genetic entities associated with tooth agenesis.Clinical oral investigations · 2024Review
- Genotypic and phenotypic correlations in tooth agenesis: insights from WNT10A and EDA mutations in syndromic and non-syndromic forms.Human genetics · 2024Review
- Novel frameshift variant of WNT10A in a Japanese patient with hypodontia.Human genome variation · 2024Article
- Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development.Organogenesis · 2023Review
- Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.Clinical oral investigations · 2023Article
- LRP6 High Bone Mass Characterized in Two Generations Harboring a Unique Mutation of Low-Density Lipoprotein Receptor-Related Protein 6.JBMR plus · 2023Article
- Genetic/Protein Association of Atopic Dermatitis and Tooth Agenesis.International journal of molecular sciences · 2023Review
- Tooth number abnormality: from bench to bedside.International journal of oral science · 2023Review
- Identification of potential key variants in mandibular premolar hypodontia through whole-exome sequencing.Frontiers in genetics · 2023Article
- Rethinking the Genetic Etiology of Nonsyndromic Tooth Agenesis.Current osteoporosis reports · 2022Review
- Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.Journal of clinical medicine · 2022Article
Corrections and comments
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Authors and funding
18 authors at 6 institutions in 2 countries.
Funding
Abstract
Tooth agenesis is a common craniofacial abnormality in humans and represents failure to develop 1 or more permanent teeth. Tooth agenesis is complex, and variations in about a dozen genes have been reported as contributing to the etiology. Here, we combined whole-exome sequencing, array-based genotyping, and linkage analysis to identify putative pathogenic variants in candidate disease genes for tooth agenesis in 10 multiplex Turkish families. Novel homozygous and heterozygous variants in LRP6, DKK1, LAMA3, and COL17A1 genes, as well as known variants in WNT10A, were identified as likely pathogenic in isolated tooth agenesis. Novel variants in KREMEN1 were identified as likely pathogenic in 2 families with suspected syndromic tooth agenesis. Variants in more than 1 gene were identified segregating with tooth agenesis in 2 families, suggesting oligogenic inheritance. Structural modeling of missense variants suggests deleterious effects to the encoded proteins. Functional analysis of an indel variant (c.3607+3_6del) in LRP6 suggested that the predicted resulting mRNA is subject to nonsense-mediated decay. Our results support a major role for WNT pathways genes in the etiology of tooth agenesis while revealing new candidate genes. Moreover, oligogenic cosegregation was suggestive for complex inheritance and potentially complex gene product interactions during development, contributing to improved understanding of the genetic etiology of familial tooth agenesis.
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