https://scholars.lib.ntu.edu.tw/handle/123456789/630768
標題: | The Modified Shields Classification and 12 Families with Defined DSPP Mutations | 作者: | Simmer, James P Zhang, Hong Moon, Sophie J H Donnelly, Lori A-J YUAN-LING LEE Seymen, Figen Koruyucu, Mine Chan, Hui-Chen Lee, Kevin Y Wu, Suwei Hsiang, Chia-Lan Tsai, Anthony T P Slayton, Rebecca L Morrow, Melissa SHIH-KAI WANG Shields, Edward D Hu, Jan C-C |
關鍵字: | DSPP mutations; Shields Classification; Single Molecule Real-Time (SMRT) DNA sequencing; dentin dysplasia; dentinogenesis imperfecta; enamel malformations; whole-exome sequencing (WES) | 公開日期: | 12-五月-2022 | 出版社: | MDPI | 卷: | 13 | 期: | 5 | 來源出版物: | Genes | 摘要: | 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. |
URI: | https://scholars.lib.ntu.edu.tw/handle/123456789/630768 | ISSN: | 2073-4425 | DOI: | 10.3390/genes13050858 |
顯示於: | 牙醫學系 |
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