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Related Experiment Video

Updated: Apr 13, 2026

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ACP4 Variants in Hypoplastic Amelogenesis Imperfecta.

Lu Liu1, Cheuk Wang Au2, Ummey Hany3

  • 1School of Dentistry, University of Leeds, Worsley Building, Clarendon Way, Leeds, LS2 9LU, UK.

Calcified Tissue International
|April 11, 2026
PubMed
Summary
This summary is machine-generated.

Genetic variants in the acid phosphatase 4 (ACP4) gene are a significant cause of inherited tooth enamel defects, known as Amelogenesis imperfecta (AI). This study identifies new ACP4 variants, highlighting their importance in recessive AI.

Keywords:
ACP4Acid phosphatase 4Amelogenesis imperfectaEnamel

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Area of Science:

  • Genetics
  • Oral Biology
  • Biochemistry

Background:

  • Amelogenesis imperfecta (AI) encompasses rare inherited disorders affecting tooth enamel formation.
  • Human acid phosphatase 4 (ACP4), a transmembrane protein, is crucial for enamel growth.
  • Recessive AI phenotypes are linked to variants in the ACP4 gene.

Purpose of the Study:

  • To identify and characterize novel ACP4 variants associated with Amelogenesis imperfecta.
  • To review and consolidate known ACP4 variants causing AI.
  • To assess the prevalence of ACP4 variants in recessive AI.

Main Methods:

  • Genetic analysis of affected families, including long-read sequencing.
  • Variant calling and pathogenicity assessment.
  • Literature review of previously reported ACP4 variants in AI.

Main Results:

  • A new founder variant (c.254T>C, p.(Pro85Leu)) in ACP4 was identified in Pakistani families.
  • Two additional families were homozygous for previously reported pathogenic ACP4 variants.
  • This study brings the total number of families with ACP4-associated AI to 22, with 18 distinct variants identified.

Conclusions:

  • ACP4 variants represent a significant genetic cause of recessive Amelogenesis imperfecta.
  • Both missense and frame-breaking ACP4 variants contribute to AI, likely through loss-of-function mechanisms.
  • Further research into ACP4's role in enamel formation is warranted.