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Case Reports in Dentistry
Volume 2014 (2014), Article ID 319680, 5 pages
http://dx.doi.org/10.1155/2014/319680
Case Report

Amelogenesis Imperfecta and Screening of Mutation in Amelogenin Gene

1Department 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
2Department of Biological Sciences, Bauru School of Dentistry, University of São Paulo, Alameda Octávio Pinheiro Brisolla, No. 9-75, 17012-901 Bauru, SP, Brazil
3Hospital for the Rehabilitation of Craniofacial Anomalies, University of São Paulo, Rua Silvio Marchione, No. 3-20, 17012-900 Bauru, SP, Brazil

Received 13 March 2014; Accepted 1 June 2014; Published 19 June 2014

Academic Editor: Gülnur Emingil

Copyright © 2014 Fernanda Veronese Oliveira et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.