RESUMO
Mutations in Dentin Sialophosphoprotein (DSPP) are known to cause, in order of increasing severity, dentin dysplasia type-II (DD-II), dentinogenesis imperfecta type-II (DGI-II), and dentinogenesis imperfecta type-III (DGI-III). DSPP mutations fall into two groups: a 5'-group that affects protein targeting and a 3'-group that shifts translation into the −1 reading frame. Using whole-exome sequence (WES) analyses and Single Molecule Real-Time (SMRT) sequencing, we identified disease-causing DSPP mutations in 12 families. Three of the mutations are novel: c.53T>C/p.(Val18Ala); c.3461delG/p.(Ser1154Metfs*160); and c.3700delA/p.(Ser1234Alafs*80). We propose genetic analysis start with WES analysis of proband DNA to identify mutations in COL1A1 and COL1A2 causing dominant forms of osteogenesis imperfecta, 5'-DSPP mutations, and 3'-DSPP frameshifts near the margins of the DSPP repeat region, and SMRT sequencing when the disease-causing mutation is not identified. After reviewing the literature and incorporating new information showing distinct differences in the cell pathology observed between knockin mice with 5'-Dspp or 3'-Dspp mutations, we propose a modified Shields Classification based upon the causative mutation rather than phenotypic severity such that patients identified with 5'-DSPP defects be diagnosed as DGI-III, while those with 3'-DSPP defects be diagnosed as DGI-II.
Assuntos
Dentinogênese Imperfeita , Animais , Dentinogênese Imperfeita/genética , Proteínas da Matriz Extracelular/genética , Humanos , Camundongos , Mutação , Linhagem , Fosfoproteínas/genética , Sialoglicoproteínas/genéticaRESUMO
The purpose of this study was to assess the prevalence and distribution of dental caries and periodontal disease in Taiwanese high school students aged 15-18. A total of 1069 Taiwanese students participated in a cross-sectional nationwide dental survey. By using a stratified method based on the National Health Insurance administration regions, 24 high schools were randomly sampled in different areas of Taiwan. The participants were examined with dental mirrors and community periodontal index (CPI) probes without using radiographs, to measure dental caries and periodontal status. Demographic information and other relevant risk indicators for the two diseases were gathered via a self-report questionnaire. In this study population, the weighted mean decayed, missing and filled teeth (DMFT) scores for ages 15 to 18 were 5.2, 6.1, 6.1, and 5.7. The weighted mean decayed, missing and filled surfaces (DMFS) scores were 9.0, 12.0, 13.1, and 11.2 at ages 15, 16, 17, and 18, respectively. Additionally, 88.2% of the subjects had periodontal disease, with calculus as the most prevalent type. Moreover, 5.2% of these students showed loss of attachment. There was no significant association between dental caries and periodontal disease. Dental caries and periodontal disease were prevalent among Taiwanese high school students in this national dental survey.
Assuntos
Cárie Dentária , Doenças Periodontais , Adolescente , Estudos Transversais , Índice CPO , Cárie Dentária/epidemiologia , Humanos , Doenças Periodontais/epidemiologia , Prevalência , Instituições Acadêmicas , Estudantes , Taiwan/epidemiologiaRESUMO
OBJECTIVES: The purpose of this study was to investigate the prevalence, patterns, and etiological factors for caries in children. METHODS: A total of 981 children less than 6 years of age were examined using a dental mirror and explorer. A parent or a caregiver was asked to complete a questionnaire regarding information about the child, the household, and oral hygiene. The prevalence and patterns of dental caries including pit and fissure caries, facial/lingual caries, molar proximal caries, and facial/lingual molar proximal lesions, were analyzed. Each child was classified as caries free or as having one of these four caries patterns. RESULTS: Weighted mean deft was 0.14 at age 2, 2.58 at age 3, 4.41 at age 4, 6.94 at age 5, and 7.31 at age 6. Weighted mean defs was 4.71, 8.44, 16.45 and 18.64 at ages 3, 4, 5, and 6, respectively. By age 2, 5.09% of children had caries. By age 6, 89.38% of children had caries. By age 3, 30.02% of children fitted the facial and lingual pattern of caries and by age 6, 52.90% of children fit the 'facial-lingual and molar-proximal' pattern, indicating extensive smooth surface decay. The total prevalence of early childhood caries was 56%. Multivariate-adjusted odds ratios identified factors associated with the high caries experience of the young children and found caries was strongly associated with the lack of proper tooth brushing and high consumption of sweets. Higher caries scores were also associated with areas of low urbanization. CONCLUSIONS: The findings of this survey indicated a high level of untreated caries among children in Taiwan.