Genotype-Phenotype Autosomal-Dominant Amelogenesis Imperfecta Study in Families: Exonic Mutations Exclussion

“INTRODUCTION:”, mutations in the gene which codify for the enamelin gene (ENAM) cause autosomal dominant amelogenesis imperfecta (ADAI) and Autosomal Recesive Amelogenesis Imperfecta (ARAI) with phenotypes characterized by mild to severe hypoplasic enamel. Although it is considered that the AI affects mainly the enamel, various studies have reported dental and skeletical abnormalities related with this entity. “OBJECTIVE:”, Study the clinical characteristics and investigate the presence of mutations in the ENAM gene in patients with AIAD in five Colombian families. “MATERIALS AND METHODS:”, The affected individuals were analyzed as well as the non affected ones in five Colombian families with AIAD to whom clinical, radiographic, photographic and genetic evaluations were taken. The codified region of the ENAM was sequenciated for the mutational analysis. “RESULTS:”, The clinical, radiographic and photographic results showed hypoplasic phenotype in the majority of the affected except in one family in which the phenotype was hipomadurative. Dental agenesis and radicular dilacerations were the dental abnormalities most frequently found in the affected ones and taurodontism was absent. The most frequent squeletical abnormalities found were anterior open bite (50%) inferior micrognatism (55%) and also abnormal vertical overbite (43%). For the mutational analysis the ENAM gene codified region was sequenciated, with the purpose of evaluating the genetic etiology of the disease. In total 8 exons were amplified and sequentiated without finding evidence of the reported mutations and other possible mutations that causes the illness. “CONCLUSIONS:”, these results suggest that the AIAD presents genetic heterogeneity, showing the need to analyze regions which were not included in this investigation as were the promoted region and intronic region. Additionally, other genes should be considered as potential candidates which could be the cause of the disease in order to establish a phenotype-genotype correlation in our population.