title: Amelogenin gene influence on enamel defects of cleft lip and palate patients.
abstract: The aim of this study was to investigate the occurrence of mutations in the amelogenin gene (AMELX) in patients with cleft lip and palate (CLP) and enamel defects (ED). A total of 165 patients were divided into four groups: with CLP and ED (n=46), with CLP and without ED (n = 34), without CLP and with ED (n = 34), and without CLP or ED (n = 51). Genomic DNA was extracted from saliva followed by conducting a Polymerase Chain Reaction and direct DNA sequencing of exons 2 through 7 of AMELX. Mutations were found in 30% (n = 14), 35% (n = 12), 11% (n = 4) and 13% (n = 7) of the subjects from groups 1, 2, 3 and 4, respectively. Thirty seven mutations were detected and distributed throughout exons 2 (1 mutation - 2.7%), 6 (30 mutations - 81.08%) and 7 (6 mutations - 16.22%) of AMELX. No mutations were found in exons 3, 4 or 5. Of the 30 mutations found in exon 6, 43.34% (n = 13), 23.33% (n = 7), 13.33% (n = 4) and 20% (n = 6) were found in groups 1, 2, 3 and 4, respectively. c.261 C > T (rs2106416), a silent mutation, was detected in 26 subjects, and found more significantly (p = 0.003) in patients with CLP (groups 1 and 2 - 23.75%), compared with those without CLP (groups 3 and 4 - 8.23%). In the groups without ED, this silent mutation was also found more significantly (p = 0.032) among subjects with CLP (17.65% in group 2), compared with those without CLP (7.8% in group 4). In conclusion, this study suggested that AMELX may be a candidate gene for cleft lip and palate.
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
authors.forename: Fernanda Veronese
authors.initials: FV
authors.lastname: Oliveira
authors.affiliation: Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
authors.forename: Thiago José
authors.initials: TJ
authors.lastname: Dionísio
authors.affiliation: Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
authors.forename: Lucimara Teixeira
authors.initials: LT
authors.lastname: Neves
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
authors.forename: Maria Aparecida Andrade Moreira
authors.initials: MA
authors.lastname: Machado
authors.affiliation: Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
authors.forename: Carlos Ferreira
authors.initials: CF
authors.lastname: Santos
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Bauru, SP, Brazil.
authors.forename: Thais Marchini
authors.initials: TM
authors.lastname: Oliveira
mesh_terms: D000293:Adolescent; D000566:Amelogenesis / Q000235:genetics; D053523:Amelogenin / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003743:Dental Enamel / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D053523:Amelogenin