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

Author(s)

Oliveira, Fernanda Veronese ; Dionisio, Thiago Jose ; Neves, Lucimara Teixeira ; Andrade Moreira Machado, Maria Aparecida ; Santos, Carlos Ferreira ; Oliveira, Thais Marchini

• Document type: Journal article
• Source: BRAZILIAN ORAL RESEARCH; v. 28, n. 5, p. 6-pg., 2014-09-01.

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. (AU)

• FAPESP's process: 08/08927-8 - Screening of mutation in the genes IRF6, MSX1 and PAX9 in subjects with cleft lip and palate and tooth agenesis
• Grantee: Carlos Ferreira dos Santos
• Support Opportunities: Regular Research Grants
• FAPESP's process: 09/12289-0 - Genetic study of AMELX and ENAM gene mutations on dental malformations of patients with and without cleft lip and palate
• Grantee: Fernanda Veronese de Oliveira
• Support Opportunities: Scholarships in Brazil - Master
• FAPESP's process: 09/12233-4 - Genetic study of AMELX and ENAM gene mutations on dental malformations of patients with and without cleft lip and palate
• Grantee: Thais Marchini de Oliveira Valarelli
• Support Opportunities: Regular Research Grants