ArticleInternational journal of oral science2018
Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.
Article in International journal of oral science, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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18 citing papers in PubMed, 1 synthesis or guideline pooled it, 36 citations in OpenAlex.
- Genes in the pathway of tooth mineral tissues and dental caries risk: a systematic review and meta-analysis.Clinical oral investigations · 2020Pooled it
- Identification of GLDNInternational journal of oral science · 2026Article
- Role of Genes in Dens Invaginatus: A Whole Exome Sequencing Study.International journal of clinical pediatric dentistry · 2025Article
- Expression ofInternational journal of molecular sciences · 2025Article
- The role of the TGF-β1 signaling pathway in the process of amelogenesis.Frontiers in physiology · 2025Review
- Ameloblastin and its multifunctionality in amelogenesis: A review.Matrix biology : journal of the International Society for Matrix Biology · 2024Review
- Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.Journal of dental research · 2024Article
- The Dynamic Interactions of a Multitargeting Domain in Ameloblastin Protein with Amelogenin and Membrane.International journal of molecular sciences · 2023Article
- Article
- A novel FAM83H variant causes familial amelogenesis imperfecta with incomplete penetrance.Molecular genetics & genomic medicine · 2022Article
- The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.Clinical oral investigations · 2021Article
- Characterization of AMBN I and II Isoforms and Study of Their CaInternational journal of molecular sciences · 2020Article
- An Evolutionarily Conserved Helix Mediates Ameloblastin-Cell Interaction.Journal of dental research · 2020Article
- Effects of lipid metabolism on mouse incisor dentinogenesis.Scientific reports · 2020Article
- Co-Immunoprecipitation Reveals Interactions Between Amelogenin and AmeloblastinFrontiers in physiology · 2020Article
- [Structural characteristics of the deciduous teeth of Tibetan miniature pigs].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2019Article
- AMBN mutations causing hypoplastic amelogenesis imperfecta and Ambn knockout-NLS-lacZ knockin mice exhibiting failed amelogenesis and Ambn tissue-specificity.Molecular genetics & genomic medicine · 2019Article
- Article
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12 authors at 4 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Tooth development is a complex process that involves precise and time-dependent orchestration of multiple genetic, molecular, and cellular interactions. Ameloblastin (AMBN, also named "amelin" or "sheathlin") is the second most abundant enamel matrix protein known to have a key role in amelogenesis. Amelogenesis imperfecta (AI [MIM: 104500]) refers to a genetically and phenotypically heterogeneous group of conditions characterized by inherited developmental enamel defects. The hereditary dentin disorders comprise a variety of autosomal-dominant genetic symptoms characterized by abnormal dentin structure affecting either the primary or both the primary and secondary teeth. The vital role of Ambn in amelogenesis has been confirmed experimentally using mouse models. Only two cases have been reported of mutations of AMBN associated with non-syndromic human AI. However, no AMBN missense mutations have been reported to be associated with both human AI and dentin disorders. We recruited one kindred with autosomal-dominant amelogenesis imperfecta (ADAI) and dentinogenesis imperfecta/dysplasia characterized by generalized severe enamel and dentin defects. Whole exome sequencing of the proband identified a novel heterozygous C-T point mutation at nucleotide position 1069 of the AMBN gene, causing a Pro to Ser mutation at the conserved amino acid position 357 of the protein. Exfoliated third molar teeth from the affected family members were found to have enamel and dentin of lower mineral density than control teeth, with thinner and easily fractured enamel, short and thick roots, and pulp obliteration. This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders.
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