F Li1, Y Liu1, H Liu1, J Yang1, F Zhang2, H Feng1. 1. 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. 2. Department of Pediatrics, Peking University School and Hospital of Stomatology, Beijing, China.
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. MATERIALS AND 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.
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. MATERIALS AND 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: James P Simmer; Hong Zhang; Sophie J H Moon; Lori A-J Donnelly; Yuan-Ling Lee; Figen Seymen; Mine Koruyucu; Hui-Chen Chan; Kevin Y Lee; Suwei Wu; Chia-Lan Hsiang; Anthony T P Tsai; Rebecca L Slayton; Melissa Morrow; Shih-Kai Wang; Edward D Shields; Jan C-C Hu Journal: Genes (Basel) Date: 2022-05-12 Impact factor: 4.141
Authors: Tian Liang; Yuanyuan Hu; Hong Zhang; Qian Xu; Charles E Smith; Chuhua Zhang; Jung-Wook Kim; Shih-Kai Wang; Thomas L Saunders; Yongbo Lu; Jan C-C Hu; James P Simmer Journal: Sci Rep Date: 2021-10-19 Impact factor: 4.379