Literature DB >> 18797159

Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.

A C Acevedo1, L J S Santos, L M Paula, J Dong, M MacDougall.   

Abstract

The aim of this study was to perform phenotype analysis and dentin sialophosphoprotein (DSPP) mutational analysis on 3 Brazilian families diagnosed with dentinogenesis imperfecta type II (DGI-II) attending the Dental Anomalies Clinic in Brasilia, Brazil. Physical and oral examinations, as well as radiographic and histopathological analyses, were performed on 28 affected and unaffected individuals. Clinical, radiographic and histopathological analyses confirmed the diagnosis of DGI-II in 19 individuals. Pulp stones were observed in ground sections of several teeth in 2 families, suggesting that obliteration of pulp chambers and root canals results from the growth of these nodular structures. Mutational DSPP gene analysis of representative affected family members revealed 7 various non-disease-causing alterations in exons 1-4 within the dentin sialoprotein domain. Further longitudinal studies are necessary to elucidate the progression of pulpal obliteration in the DGI-II patients studied as well as the molecular basis of their disease. Copyright 2008 S. Karger AG, Basel.

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Year:  2008        PMID： 18797159      PMCID： PMC2824200          DOI： 10.1159/000152917

Source DB:  PubMed          Journal:  Cells Tissues Organs        ISSN： 1422-6405            Impact factor:   2.481


  24 in total

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7.  A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

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Review 1.  Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.

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2.  A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.

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  2 in total

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