Amelogenin gene influence on enamel defects of cleft lip and palate patients

• Published in: Brazilian oral research Vol. 28; no. 1; pp. 1 - 6
• Main Authors: OLIVEIRA, Fernanda Veronese, DIONÍSIO, Thiago José, NEVES, Lucimara Teixeira, MACHADO, Maria Aparecida Andrade Moreira, SANTOS, Carlos Ferreira, OLIVEIRA, Thais Marchini
• Format: Journal Article
• Language: English
• Published: Brazil Sociedade Brasileira de Pesquisa Odontológica - SBPqO 2014; Sociedade Brasileira de Pesquisa Odontológica
• Subjects: Adolescent; Amelogenesis - genetics; Amelogenin; Amelogenin - genetics; Case-Control Studies; Child; Cleft Lip; Cleft Lip - genetics; Cleft Palate; Cleft Palate - genetics; Dental Enamel; Dental Enamel - abnormalities; DENTISTRY, ORAL SURGERY & MEDICINE; Female; Humans; Male; Mutation - genetics; Polymerase Chain Reaction; Sequence Analysis, DNA; Cleft Palate; Cleft Lip; Dental Enamel; Amelogenin
• ISSN: 1806-8324; 1807-3107; 1807-3107
• DOI: 10.1590/1807-3107BOR-2014.vol28.0035

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.