title: Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.
abstract: OBJECTIVE
  Hereditary dentin defects can be categorised into two classes according to their clinical manifestations: dentinogenesis imperfecta (DGI), which includes three types (DGI-I, DGI-II and DGI-III), and dentin dysplasia (DD), which includes two types (DD-I and DD-II). This study investigated the phenotypic characteristics and genetic causes of hereditary dentin defects in seven Chinese families.
  
  
  METHODS
  Seven families affected with DGI-II, DGI-III or DD-II were enrolled. Clinical examinations were performed to determine the phenotypic characteristics, and DNA samples were collected for Sanger sequencing.
  
  
  RESULTS
  Clinical diagnoses revealed DGI-II in five families, DGI-III in one family and DD-II in one family. Variants of the dentin sialophosphoprotein (DSPP) gene were found in six of the seven families. Of these, c.52G>T was identified in two families. Each of the remaining four families had a different variant: c.2684delG, c.52-2A>G, c.1874-1877delACAG and c.3509-3521del13bp; the last three variants were novel.
  
  
  CONCLUSIONS
  This is the first study to analyse all three important types of hereditary dentin defect and include comprehensive genetic analyses of both dentin sialoprotein and dentin phosphoprotein in Chinese families. This study expands the spectrum of DSPP variants, highlighting their associated phenotypic continuum.
authors.affiliation: Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: F
authors.initials: F
authors.lastname: Li
authors.affiliation: Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: H
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: J
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: F
authors.initials: F
authors.lastname: Zhang
authors.affiliation: Department of Prosthodontics, National Engineering Laboratory for Digital and Material Technology of Stomatology, Beijing Key Laboratory of Digital Stomatology, Peking University School and Hospital of Stomatology, Beijing, China.
authors.forename: H
authors.initials: H
authors.lastname: Feng
mesh_terms: D002648:Child; D002675:Child, Preschool; D002681:China; D003805:Dentin Dysplasia / Q000235:genetics*; D003811:Dentinogenesis Imperfecta / Q000235:genetics*; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012795:Sialoglycoproteins / Q000235:genetics*; D000099311:Dentin Sialophosphoprotein
chemical_list: D016326:Extracellular Matrix Proteins; D010750:Phosphoproteins; D012795:Sialoglycoproteins; D000099311:Dentin Sialophosphoprotein
keywords: dentin dysplasia; dentin sialophosphoprotein; dentinogenesis imperfecta; variants