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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Urzúa, Blanca Ortega-Pinto, Ana Farias, Daniela Adorno Franco, Eugenia Morales-Bozo, Irene Moncada, Gustavo Escobar-Pezoa, Nicolás Scholz, Ursula Cifuentes, Victor |
| Description | Country affiliation: Chile Author Affiliation: Urzúa B ( Department of Physical and Chemical Sciences, University of Chile, Santiago de Chile, Chile. burzua@uchile.cl) |
| 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. |
| File Format | HTM / HTML |
| ISSN | 00016357 |
| Issue Number | 1 |
| Volume Number | 70 |
| e-ISSN | 15023850 |
| Journal | Acta Odontologica Scandinavica |
| Language | English |
| Publisher | Taylor & Francis |
| Publisher Date | 2012-01-01 |
| Publisher Place | Great Britain (UK) |
| Access Restriction | Subscribed |
| Subject Keyword | Discipline Dentistry Amelogenesis Imperfecta Genetics Pathology Dental Enamel Proteins Matrix Metalloproteinase 20 Adolescent Classification Case-control Studies Cephalometry Child Dna Mutational Analysis Female Genes, Recessive Humans Male Mutation Patient Care Team Pedigree Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Dentistry Medicine |
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