A multidisciplinary approach for the diagnosis of hypocalcified amelogenesis imperfecta in two Chilean families

Blanca Urzúa*, Ana Ortega-Pinto, Daniela Adorno Farias, Eugenia Franco, Irene Morales-Bozo, Gustavo Moncada, Nicols Escobar-Pezoa, Ursula Scholz, Victor Cifuentes

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Objective. The purpose of this study was to conduct a multidisciplinary analysis of a specific type of tooth enamel disturbance (amelogenesis imperfecta) affecting two Chilean families to obtain a precise diagnosis and to investigate possible underlying mutations. Materials and methods. Two non-related families affected with amelogenesis imperfecta were evaluated with clinical, radiographic and histopathological methods. Furthermore, pedigrees of both families were constructed and the presence of eight mutations in the enamelin gene (ENAM) and three mutations in the enamelysin gene (MMP-20) were investigated by PCR and direct sequencing. Results. In the two affected patients, the dental malformation presented as soft and easily disintegrated enamel and exposed dark dentin. Neither of the affected individuals presented with a dental and skeletal open bite. Histologically, a high level of an organic matrix with prismatic organization was found. Genetic analysis indicated that the condition is autosomal recessive in one family and either autosomal recessive or due to a new mutation in the other family. Molecular mutational analysis revealed that none of the eight mutations previously described in the ENAM gene or the three mutations in the MMP-20 gene were present in the probands. Conclusion . A multidisciplinary analysis allowed for a diagnosis of hypocalcified amelogenesis imperfecta, Witkop type III, which was unrelated to previously described mutations in the ENAM or MMP-20 genes.

Original languageEnglish
Pages (from-to)7-14
Number of pages8
JournalActa Odontologica Scandinavica
Volume70
Issue number1
DOIs
StatePublished - Jan 2012
Externally publishedYes

Keywords

  • Amelogenesis imperfecta
  • Enamel malformation
  • Hypocalcified enamel

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