title: Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families.
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.
authors.affiliation: Dental Anomalies Clinic, Dentistry School, Oral Health Faculty, University of Brasilia, Brasilia, Brazil.
authors.forename: A C
authors.initials: AC
authors.lastname: Acevedo
authors.forename: L J S
authors.initials: LJ
authors.lastname: Santos
authors.forename: L M
authors.initials: LM
authors.lastname: Paula
authors.forename: J
authors.initials: J
authors.lastname: Dong
authors.forename: M
authors.initials: M
authors.lastname: MacDougall
mesh_terms: 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
chemical_list: D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein
references.citation: J Dent Res. 2001 Jun;80(6):1555-9
references.pmid: 11499512
references.citation: J Dent Res. 2006 Apr;85(4):329-33
references.pmid: 16567553
references.citation: Swed Dent J. 1988;12(3):73-84
references.pmid: 3165569
references.citation: J Biol Chem. 2003 Jul 4;278(27):24874-80
references.pmid: 12721295
references.citation: Hum Genet. 2004 Aug;115(3):248-54
references.pmid: 15241678
references.citation: Cells Tissues Organs. 2007;186(1):70-7
references.pmid: 17627120
references.citation: Hum Mol Genet. 2002 Oct 1;11(21):2559-65
references.pmid: 12354781
references.citation: J Oral Pathol. 1988 Nov;17(9-10):547-53
references.pmid: 3150442
references.citation: Nat Genet. 2001 Feb;27(2):201-4
references.pmid: 11175790
references.citation: Am J Med Genet A. 2005 Jan 30;132A(3):305-9
references.pmid: 15690376
references.citation: Hum Genet. 2005 Feb;116(3):186-91
references.pmid: 15592686
references.citation: Birth Defects Orig Artic Ser. 1971 Jun;7(7):153-84
references.pmid: 4375507
references.citation: Arch Oral Biol. 2001 May;46(5):459-70
references.pmid: 11286811
references.citation: Am J Med Genet. 1993 Jan 15;45(2):193-200
references.pmid: 8456802
references.citation: Ala J Med Sci. 1966 Oct;3(4):382-403
references.pmid: 5978170
references.citation: Dent Clin North Am. 1975 Jan;19(1):25-45
references.pmid: 162890
references.citation: BMC Med Genet. 2007 Aug 08;8:52
references.pmid: 17686168
references.citation: J Dent Res. 1981 Sep;60(9):1655-60
references.pmid: 6943158
references.citation: Arch Oral Biol. 1973 Apr;18(4):543-53
references.pmid: 4516067
references.citation: Hum Genet. 2004 Apr;114(5):491-8
references.pmid: 14758537
references.citation: Nat Genet. 2001 Feb;27(2):151-2
references.pmid: 11175779
references.citation: Eur J Oral Sci. 2006 Oct;114(5):381-4
references.pmid: 17026502
references.citation: Am J Med Genet A. 2006 Dec 1;140(23):2536-46
references.pmid: 16955410
references.citation: J Biol Chem. 1997 Jan 10;272(2):835-42
references.pmid: 8995371