Novel frameshift mutations in DSPP cause dentin dysplasia type II
نویسندگان
چکیده
منابع مشابه
The dentin phosphoprotein repeat region and inherited defects of dentin.
Nonsyndromic dentin defects classified as type II dentin dysplasia and types II and III dentinogenesis imperfecta are caused by mutations in DSPP (dentin sialophosphoprotein). Most reported disease-causing DSPP mutations occur within the repetitive DPP (dentin phosphoprotein) coding sequence. We characterized the DPP sequences of five probands with inherited dentin defects using single molecule...
متن کاملEnamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.
Dentin sialophosphoprotein (DSPP) mutations cause dentin dysplasia type II (DD-II) and dentinogenesis imperfecta types II and III (DGI-II and DGI-III, respectively). We identified two kindreds with DGI-II who exhibited vertical bands of hypoplastic enamel. Both families had a previously reported DSPP mutation that segregated with the disease phenotype. Oral photographs and dental radiographs of...
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Introduction: Dentin Dysplasia is one of the rare hereditary diseases that the enamel is normal, but it also affects the dentin and the shape of the tooth pulp. Due to the low prevalence of this disease, a case of dentin dysplasia with the classical and atypical dentin dysplasia type 1 is presented. Case presentation:A 11-year-old girl with the mobility of lower central teeth that has severe ...
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ژورنال
عنوان ژورنال: Oral Diseases
سال: 2019
ISSN: 1354-523X,1601-0825
DOI: 10.1111/odi.13182