Identification of a novel mutation in the enamalin gene in a family with autosomal-dominant amelogenesis imperfecta.

Abstract excerpt

Amelogenesis imperfecta (AI) is a heterogeneous genetic disorder that affects the formation of the dental enamel matrix. Mutations in the enamelin (ENAM) gene have been found in patients with this disorder. The objective of this research was to identify the mutations reported in exons 4, 7 and 9 of the ENAM gene in a single Colombian family with autosomal-dominant AI and to establish the phenotype. The fragments...

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