title: Splicing site mutations in dentin sialophosphoprotein causing dentinogenesis imperfecta type II.
abstract: Dentinogenesis imperfecta (DGI) type II (OMIM # 125490) is an inherited disorder affecting dentin. Defective dentin formation results in discolored teeth that are prone to attrition and fracture. To date, several mutations have been described in the dentin sialophosphoprotein (DSPP) gene, causing DGI types II and III and dentin dysplasia type II. DSPP encodes two proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Here, we describe a mutational analysis of DSPP in seven Finnish families with DGI type II. We report two mutations and five single nucleotide polymorphisms. In one family we found a mutation that has been described earlier in families with different ethnicity, while in six families we found a novel g.1194C>A (IVS2-3) transversion. Bioinformatic analysis of known DSPP mutations suggests that DGI type II is usually caused by aberration of normal splicing.
authors.affiliation: Institute of Dentistry, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland. heidi.holappa@helsinki.fi
authors.forename: Heidi
authors.initials: H
authors.lastname: Holappa
authors.forename: Pekka
authors.initials: P
authors.lastname: Nieminen
authors.forename: Liisa
authors.initials: L
authors.lastname: Tolva
authors.forename: Pirjo-Liisa
authors.initials: PL
authors.lastname: Lukinmaa
authors.forename: Satu
authors.initials: S
authors.lastname: Alaluusua
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D003804:Dentin / Q000002:abnormalities*; D003811:Dentinogenesis Imperfecta / Q000235:genetics*; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005387:Finland; D008040:Genetic Linkage / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins; D017422:Sequence Analysis, DNA; D012795:Sialoglycoproteins; D011795:Surveys and Questionnaires; D000099311:Dentin Sialophosphoprotein
chemical_list: D016326:Extracellular Matrix Proteins; D005819:Genetic Markers; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein