ArticleScientific reports2019
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 22 citations in OpenAlex.
- Whole exome sequencing and cluster analysis reveal that EPB41L4A mutation may trigger tooth agenesis.PloS one · 2026Article
- Mechanisms of primary failure of eruption: a new model of multidimensional framework.Progress in orthodontics · 2025Review
- Primary Failure of Eruption: A Rare but Desperate Condition for Orthodontic Treatment.Turkish journal of orthodontics · 2025Article
- Review
- Etiological Mechanisms and Genetic/Biological Modulation Related to PTH1R in Primary Failure of Tooth Eruption.Calcified tissue international · 2024Review
- Article
- Rare Case of First Permanent Molar Primary Failure of Eruption with Agenesis of Premolars.Children (Basel, Switzerland) · 2024Article
- Novel germline variants inFrontiers in neurology · 2024Article
- Primary failure of tooth eruption: Etiology and management.The Japanese dental science review · 2022Review
- Coevolution of Rumen Epithelial circRNAs with Their Microbiota and Metabolites in Response to Cold-Season Nutritional Stress in Tibetan Sheep.International journal of molecular sciences · 2022Article
- Association of KMT2C Genetic Variants with the Clinicopathologic Development of Oral Cancer.International journal of environmental research and public health · 2022Article
- De Novo Mutation in KMT2C Manifesting as Kleefstra Syndrome 2: Case Report and Literature Review.Pediatric reports · 2022Article
- Identification of a Rare Novel KMT2C Mutation That Presents with Schizophrenia in a Multiplex Family.Journal of personalized medicine · 2021Article
- Mapping the Inorganic and Proteomic Differences among Different Types of Human Teeth: A Preliminary Compositional Insight.Biomolecules · 2020Article
- Review of Etiology of Posterior Open Bite: Is There a Possible Genetic Cause?Clinical, cosmetic and investigational dentistry · 2020Article
- Primary failure of eruption: From molecular diagnosis to therapeutic management.Journal of oral biology and craniofacial researchArticle
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary failure of tooth eruption (PFE) is a rare odontogenic defect and is characterized by failure of eruption of one or more permanent teeth. The aim of the study is to identify the genetic defect in a family with seven affected individuals segregating autosomal dominant non-syndromic PFE. Whole genome single-nucleotide polymorphism (SNP) genotyping was performed. SNP genotypes were analysed by DominantMapper and multiple shared haplotypes were detected on different chromosomes. Four individuals, including three affected, were exome sequenced. Variants were annotated and data were analysed while considering candidate chromosomal regions. Initial analysis of variants obtained by whole exome sequencing identified damaging variants in C15orf40, EPB41L4A, TMEM232, KMT2C, and FBXW10 genes. Sanger sequencing of all family members confirmed segregation of splice acceptor site variant (c.1013-2 A > G) in the KMT2C gene with the phenotype. KMT2C is considered as a potential candidate gene based on segregation analysis, the absence of variant in the variation databases, the presence of variant in the shared identical by descent (IBD) region and in silico pathogenicity prediction. KMT2C is a histone methyltransferase and recently the role of another member of this family (KMT2D) has been implicated in tooth development. Moreover, protein structures of KMT2C and KMT2D are highly similar. In conclusion, we have identified that the KMT2C gene mutation causes familial non-syndromic PFE. These findings suggest the involvement of KMT2C in the physiological eruption of permanent teeth.
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