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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
Summary
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.
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.
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