ArticleEuropean journal of human genetics : EJHG2017
Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.
Article in European journal of human genetics : EJHG, 2017. 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, 24 citations in OpenAlex.
- Differential diagnosis of molar incisor hypomineralisation and hypomineralised second primary molars: a scoping review.European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry · 2026Review
- ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.Calcified tissue international · 2026Article
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- Tooth ultrastructure changes induced by a nonsense mutation in the FAM83H gene: insights into the diversity of amelogenesis imperfecta.Clinical oral investigations · 2023Article
- Enamel Structure Defects inBiomedicines · 2023Article
- Article
- Enamel defects in Acp4Scientific reports · 2022Article
- Recessive Mutations inJournal of dental research · 2022Article
- Article
- Article
- A novel nonsense variant in SLC24A4 causing a rare form of amelogenesis imperfecta in a Pakistani family.BMC medical genetics · 2020Article
- Pilot GWAS of caries in African-Americans shows genetic heterogeneity.BMC oral health · 2019Article
- Canine models of human amelogenesis imperfecta: identification of novel recessive ENAM and ACP4 variants.Human genetics · 2019Article
- Mapping the Tooth Enamel Proteome and Amelogenin Phosphorylation Onto Mineralizing Porcine Tooth Crowns.Frontiers in physiology · 2019Article
- Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders.International journal of oral science · 2018Article
- Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Frontiers in physiology · 2017Review
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
We identified two homozygous missense variants (c.428C>T, p.(T143M) and c.746C>T, p.(P249L)) in ACPT, the gene encoding acid phosphatase, testicular, which segregates with hypoplastic amelogenesis imperfecta in two unrelated families. ACPT is reported to play a role in odontoblast differentiation and mineralisation by supplying phosphate during dentine formation. Analysis by computerised tomography and scanning electron microscopy of a primary molar tooth from an individual homozygous for the c.746C>T variant revealed an enamel layer that was hypoplastic, but mineralised with prismatic architecture. These findings implicate variants in ACPT as a cause of early failure of amelogenesis during the secretory phase.
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