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Amelogenesis Imperfecta Due to a Mutation of the Enamelin Gene: Clinical Case With Genotype-phenotype Correlations

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The major protein components of the enamel matrix include the most abundant amelogenin proteins as well as less plentiful proteins such as enamelin and ameloblastin. The enamel defect in amelogenesis imperfecta (Al) generally results in enamel that is too thin (hypoplastic) or too soft (hypocalcification or hypomaturation). Previous reports indicate that mutations in the human enamelin gene (ENAM) cause hypoplastic Al through autosomal-dominant inheritance patterns and patients may also exhibit an anterior open bite. Although crown resorption of unerupted teeth occurs more frequently in Al patients, this finding has not been previously associated with known ENAM mutations. The purpose of this article was to report the genotype-phenotype correlations for a 9-year, 11-month-old boy with a homozygous ENAM mutation (c.1258_1259insAG).
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Document Type: Research Article

Affiliations: Pediatric Dentistry, School of Dental Medicine, The University of Pennsylvania, USA; Pediatric Dental Residency Program, Children's Hospital of Philadelphia, USA., Email: [email protected]

Publication date: January 1, 2010

More about this publication?
  • Pediatric Dentistry is the official publication of the American Academy of Pediatric Dentistry, the American Board of Pediatric Dentistry and the College of Diplomates of the American Board of Pediatric Dentistry. It is published bi-monthly and is internationally recognized as the leading journal in the area of pediatric dentistry. The journal promotes the practice, education and research specifically related to the specialty of pediatric dentistry. This peer-reviewed journal features scientific articles, case reports and abstracts of current pediatric dental research.
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