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Related Experiment Video

Updated: Jun 16, 2025

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Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.

Rick Kamps1, Herm Martens2, Bart de Koning3

  • 1Department of Translational Genomics, Maastricht University, Maastricht, the Netherlands.

Molecular Genetics & Genomic Medicine
|June 13, 2025
PubMed
Summary

Researchers identified a novel gene variant in FAM83H causing autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI) in a Dutch family. This finding advances understanding of genetic tooth enamel disorders.

Keywords:
FAM83HAmelogenesis imperfectaautosomal dominanthypocalcificationwhole‐exome sequencing

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Area of Science:

  • Genetics
  • Dentistry
  • Molecular Biology

Background:

  • Amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel formation.
  • AI presents with 14 distinct subtypes, each with unique inheritance patterns.
  • Autosomal dominant hypocalcified AI (ADHCAI) is one such subtype requiring genetic investigation.

Purpose of the Study:

  • To identify the specific gene responsible for ADHCAI in a large Dutch family.
  • To elucidate the genetic basis of enamel defects in this cohort.

Main Methods:

  • Whole-exome sequencing (WES) was employed to analyze the proband's DNA.
  • Candidate gene analysis focused on eight genes previously linked to autosomal dominant AI.
  • Sanger sequencing, genotype-phenotype correlation, and co-segregation analysis confirmed the identified variant.

Main Results:

  • Affected individuals exhibited generalized and severe enamel defects across all teeth.
  • A novel nonsense variant, c.1055C>A p.(Ser352*), was identified in the FAM83H gene.
  • This FAM83H variant segregated with the ADHCAI phenotype within the family.

Conclusions:

  • A novel, pathogenic, protein-truncating variant in FAM83H was identified.
  • This variant is associated with autosomal dominant hypocalcified AI (ADHCAI).
  • The findings contribute to the genetic understanding of amelogenesis imperfecta subtypes.