title: Amelogenesis imperfecta and screening of mutation in amelogenin gene.
abstract: The aim of this study was to report the clinical findings and the screening of mutations of amelogenin gene of a 7-year-old boy with amelogenesis imperfecta (AI). The genomic DNA was extracted from saliva of patient and his family, followed by PCR and direct DNA sequencing. The c.261C>T mutation was found in samples of mother, father, and brother, but the mutation was not found in the sequence of the patient. This mutation is a silent mutation and a single-nucleotide polymorphism (rs2106416). Thus, it is suggested that the mutation found was not related to the clinical presence of AI. Further research is necessary to examine larger number of patients and genes related to AI.
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil.
authors.forename: Fernanda Veronese
authors.initials: FV
authors.lastname: Oliveira
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil.
authors.forename: Carla Vecchione
authors.initials: CV
authors.lastname: Gurgel
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil.
authors.forename: Tatiana Yuriko
authors.initials: TY
authors.lastname: Kobayashi
authors.affiliation: Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 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, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil ; Hospital for the Rehabilitation of Craniofacial Anomalies, University of São Paulo, Rua Silvio Marchione, No. 3-20, 17012-900 Bauru, SP, Brazil.
authors.forename: Lucimara Teixeira
authors.initials: LT
authors.lastname: Neves
authors.affiliation: Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 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, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil.
authors.forename: Maria Aparecida Andrade Moreira
authors.initials: MA
authors.lastname: Machado
authors.affiliation: Department of Pediatric Dentistry, Orthodontics and Community Health, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil ; Hospital for the Rehabilitation of Craniofacial Anomalies, University of São Paulo, Rua Silvio Marchione, No. 3-20, 17012-900 Bauru, SP, Brazil.
authors.forename: Thais Marchini
authors.identifier: 0000-0003-3460-3144
authors.initials: TM
authors.lastname: Oliveira