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Candidate gene strategy reveals ENAM mutations.

H-Y Kang¹, F Seymen, S-K Lee

¹Department of Cell and Developmental Biology, Dental Research Institute and BK21 Program, School of Dentistry, Seoul National University, Seoul, Korea.

Journal of Dental Research

|March 31, 2009

Summary

Amelogenesis imperfecta (AI) is a rare genetic disorder impacting tooth enamel. Researchers identified two novel ENAM gene mutations in Turkish families, confirming a candidate-gene strategy for diagnosing AI.

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Area of Science:

Genetics
Dentistry
Molecular Biology

Background:

Amelogenesis imperfecta (AI) is a heterogeneous genetic disorder affecting tooth enamel.
AI presents without other non-oral syndromic conditions, complicating diagnosis.
A systematic approach is needed to identify genetic causes of AI.

Purpose of the Study:

To develop and test a candidate-gene-based mutational analysis strategy for Amelogenesis imperfecta.
To identify the genetic etiology of hypoplastic enamel in two Turkish families.

Main Methods:

Literature review to establish a candidate-gene strategy.
Mutational analysis of enamelin (ENAM) and DLX3 genes in affected families.
Sequencing of all exons and exon/intron boundaries of candidate genes.

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Main Results:

Two novel ENAM gene mutations were identified: an autosomal-dominant g.14917delT and an autosomal-recessive g.13185-13186insAG mutation.
The g.14917delT mutation is a novel deletion causing a frameshift and premature termination codon.
The identified mutations were linked to hypoplastic enamel in the studied families.

Conclusions:

The candidate-gene-based mutational analysis strategy is effective for identifying the genetic basis of Amelogenesis imperfecta.
The study expands the spectrum of known ENAM mutations associated with AI.
Genetic diagnosis of AI can be facilitated by targeted gene analysis.