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Related Experiment Video

Updated: Jun 23, 2026

Development of Amelogenin-chitosan Hydrogel for In Vitro Enamel Regrowth with a Dense Interface
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Published on: July 10, 2014

Phenotypic variation in FAM83H-associated amelogenesis imperfecta.

J T Wright1, S Frazier-Bowers, D Simmons

  • 1Dept. of Pediatric Dentistry, School of Dentistry, CB #7450 Brauer Hall, UNC Chapel Hill, NC 27599, USA. tim_wright@dentistry.unc.edu

Journal of Dental Research
|May 2, 2009
PubMed
Summary
This summary is machine-generated.

Gene mutations in FAM83H cause autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI). Specific FAM83H mutations correlate with distinct enamel defects, impacting dental health and craniofacial development.

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Published on: September 8, 2023

Area of Science:

  • Genetics
  • Dentistry
  • Human Physiology

Background:

  • Autosomal-dominant hypocalcified amelogenesis imperfecta (ADHCAI) is linked to FAM83H gene mutations.
  • This condition typically presents with normal enamel thickness but significantly reduced mineral content.

Purpose of the Study:

  • To investigate genotype-phenotype correlations in families with FAM83H-associated ADHCAI.
  • To identify novel mutations within the FAM83H gene and their clinical manifestations.

Main Methods:

  • Evaluated seven families (147 individuals) with segregating ADHCAI.
  • Conducted comprehensive phenotyping including clinical, radiographic, histological, and biochemical assessments.
  • Performed mutational analysis for genotyping.

Main Results:

  • Identified multiple novel FAM83H mutations, including the first non-nonsense 2-bp-deletion mutations.
  • Observed a higher prevalence of craniofacial deviations in affected individuals.
  • Correlated specific mutation types with distinct ADHCAI phenotypes: truncating mutations (≤677 amino acids) caused generalized ADHCAI, while longer protein-producing mutations (≥694 amino acids) resulted in a unique cervical enamel phenotype.

Conclusions:

  • Unique phenotypes are associated with specific FAM83H mutations.
  • Genotype-phenotype correlations provide insights into the pathomechanisms of ADHCAI.
  • Findings advance understanding of genetic factors influencing enamel development.