Amelogenesis Imperfecta due to a mutation of the enamlin gene: Clinical case with genotype-phenotype correlations.
Article Type: Brief article
Subject: Amelogenesis imperfecta (Risk factors)
Amelogenesis imperfecta (Genetic aspects)
Amelogenesis imperfecta (Research)
Gene mutations (Health aspects)
Author: Wright, Graeme
Pub Date: 04/01/2010
Publication: Name: European Archives of Paediatric Dentistry Publisher: European Academy of Paediatric Dentistry Audience: Academic Format: Magazine/Journal Subject: Health Copyright: COPYRIGHT 2010 European Academy of Paediatric Dentistry ISSN: 1818-6300
Issue: Date: April, 2010 Source Volume: 11 Source Issue: 2
Topic: Event Code: 310 Science & research
Geographic: Geographic Scope: United States Geographic Code: 1USA United States
Accession Number: 277106740
Full Text: Amelogenesis Imperfecta due to a mutation of the enamlin gene: Clinical case with genotype-phenotype correlations. RG Lindemeyer, CW Gibson, TJ Wright. Pediatr Dent 2010;32:56-60

Summary. 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 amelogensis imperfecta (AI) generally results in enamel that is too thin (hypoplastic) or too soft (hypocalcification or hypomaturation). Previous reports indicate that mutations in the human enamlin gene (ENAM) cause hypoplastic AI through autosomal dominance inheritance patterns and patients may also exhibit an anterior open bite. Although crown resorption of unerupted teeth occurs more frequently in AI 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 homozygous ENAM mutation (c.1258_1259insAG). Comment. This paper gives further information concerning the inheritance of AI and indicates that it may be possible in the not too distant future to determine the specific AI genotype and associated AI phenotype before rendering treatment. This will allow the best practice approach targeted to each child. It will allow an appropriate preventive and restorative program of dental care to be implemented.
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