ArticleMolecular genetics & genomic medicine2020
Dental malformations associated with biallelic MMP20 mutations.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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Who cites it
8 citing papers in PubMed, 13 citations in OpenAlex.
- Integrative multi-omics and bioinformatic analysis ofThe Japanese dental science review · 2026Review
- NovelJournal of dental sciences · 2026Article
- Integrating Imaging and Genomics in Amelogenesis Imperfecta: A Novel Diagnostic Approach.Genes · 2025Article
- The role of enamel matrix derivatives in periodontal regeneration following tooth replantation/transplantation: a narrative review of post-reperfusion injury.Frontiers in cell and developmental biology · 2025Review
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- Article
- Loss of BMP2 and BMP4 Signaling in the Dental Epithelium Causes Defective Enamel Maturation and Aberrant Development of Ameloblasts.International journal of molecular sciences · 2022Article
- Dental malformations associated with biallelic MMP20 mutations.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 5 countries.
Funding
Abstract
backgroundMatrix metallopeptidase 20 (MMP20) is an evolutionarily conserved protease that is essential for processing enamel matrix proteins during dental enamel formation. MMP20 mutations cause human autosomal recessive pigmented hypomaturation-type amelogenesis imperfecta (AI2A2; OMIM #612529). MMP20 is expressed in both odontoblasts and ameloblasts, but its function during dentinogenesis is unclear.
methodsWe characterized 10 AI kindreds with MMP20 defects, characterized human third molars and/or Mmp20
resultsWe identified six novel MMP20 disease-causing mutations. Four pathogenic variants were associated with exons encoding the MMP20 hemopexin-like (PEX) domain, suggesting a necessary regulatory function. Mutant human enamel hardness was softest (13% of normal) midway between the dentinoenamel junction (DEJ) and the enamel surface. bSEM and µCT analyses of the third molars revealed reduced mineral density in both enamel and dentin. Dentin close to the DEJ showed an average hardness number 62%-69% of control. Characterization of Mmp20
conclusionThese results expand the spectrum of MMP20 disease-causing mutations and provide the first evidence for MMP20 function during dentin formation.
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Registered trials
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