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. 2014:2014:319680.
doi: 10.1155/2014/319680. Epub 2014 Jun 19.

Amelogenesis imperfecta and screening of mutation in amelogenin gene

Fernanda Veronese Oliveira  1 , Carla Vecchione Gurgel  1 , Tatiana Yuriko Kobayashi  1 , Thiago José Dionísio  2 , Lucimara Teixeira Neves  3 , Carlos Ferreira Santos  2 , Maria Aparecida Andrade Moreira Machado  1 , Thais Marchini Oliveira  4
Affiliations

Amelogenesis imperfecta and screening of mutation in amelogenin gene

Fernanda Veronese Oliveira et al. Case Rep Dent. 2014.

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.

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Figures

Figure 1
Figure 1
Pedigree chart of the patient's family showing the inheritance of AI in the family studied.
Figure 2
Figure 2
Initial intraoral view showing the teeth with AI.
Figure 3
Figure 3
(a) Occlusal view of the maxillary; (b) occlusal view of the mandibular.
Figure 4
Figure 4
Panoramic radiograph showing that the thin enamel layer could not be distinguished from the underlying dentin.
Figure 5
Figure 5
Intraoral view showing early orthodontic treatment interceptive and minimal intervention.
Figure 6
Figure 6
(a), (b), and (c)-Intraoral view showing the restorative treatment and esthetic appearance of the smile.
See this image and copyright information in PMC

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