Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.
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.
Acevedo
A C
AC
Dental Anomalies Clinic, Dentistry School, Oral Health Faculty, University of Brasilia, Brasilia, Brazil.
Santos
L J S
LJ
Paula
L M
LM
Dong
J
J
MacDougall
M
M
D044467:American Indian or Alaska Native / Q000235:genetics*; D001938:Brazil; D004252:DNA Mutational Analysis; D003811:Dentinogenesis Imperfecta / Q000235:genetics* / Q000473:pathology*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins; D011859:Radiography; D012795:Sialoglycoproteins; D014070:Tooth / Q000000981:diagnostic imaging / Q000473:pathology; D000099311:Dentin Sialophosphoprotein
D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein
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