ArticleJournal of dental research2018
Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.
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 6 papers.
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Who cites it
6 citing papers in PubMed, 16 citations in OpenAlex.
- Article
- Phenotypic variability in LAMA3-associated amelogenesis imperfecta.Oral diseases · 2023Article
- Translational Attenuation by an Intron Retention in the 5' UTR ofBiomedicines · 2021Article
- A Novel De NovoGenes · 2021Article
- Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.Molecular genetics & genomic medicine · 2020Review
- Alteration of Exon Definition Causes Amelogenesis Imperfecta.Journal of dental research · 2020Article
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Authors and funding
13 authors at 4 institutions in 5 countries.
Funding
Abstract
Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1 had a heterozygous splicing donor site mutation in intron 4, NM_031889; c.123+2T>G. Affected individuals had hypoplastic enamel with or without the characteristic horizontal hypoplastic grooves in some teeth. Family 2 had a nonsense mutation in the last exon, c.1842C>G, p.(Tyr614*), that was predicted to truncate the protein by 500 amino acids. Participating individuals had at least 1 mutant allele, while the proband had a homozygous mutation. Most interestingly, the clinical phenotype of the individuals harboring the heterozygous mutation varied from a lack of penetrance to a mild hypoplastic enamel defect. We believe that these findings will broaden our understanding of the clinical phenotype of AI caused by ENAM mutations.
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Registered trials
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