dc.contributor.author | Lee, Kevin Y. | |
dc.contributor.author | KORUYUCU, Mine | |
dc.contributor.author | Wu, Suwei | |
dc.contributor.author | Chan, Hui-Chen | |
dc.contributor.author | Hu, Jan C-C | |
dc.contributor.author | Simmer, James P. | |
dc.contributor.author | Zhang, Hong | |
dc.contributor.author | Moon, Sophie J. H. | |
dc.contributor.author | Donnelly, Lori A-J | |
dc.contributor.author | Lee, Yuan-Ling | |
dc.contributor.author | Seymen, Figen | |
dc.contributor.author | Shields, Edward D. | |
dc.contributor.author | Wang, Shih-Kai | |
dc.contributor.author | Morrow, Melissa | |
dc.contributor.author | Slayton, Rebecca L. | |
dc.contributor.author | Tsai, Anthony T. P. | |
dc.contributor.author | Hsiang, Chia-Lan | |
dc.date.accessioned | 2022-07-04T13:42:45Z | |
dc.date.available | 2022-07-04T13:42:45Z | |
dc.date.issued | 2022 | |
dc.identifier.citation | Simmer J. P. , Zhang H., Moon S. J. H. , Donnelly L. A. , Lee Y., Seymen F., KORUYUCU M., Chan H., Lee K. Y. , Wu S., et al., "The Modified Shields Classification and 12 Families with Defined DSPP Mutations", GENES, cilt.13, sa.5, 2022 | |
dc.identifier.issn | 2073-4425 | |
dc.identifier.other | av_558fcd41-618a-4fcc-a979-da845de52373 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/182810 | |
dc.identifier.uri | https://doi.org/10.3390/genes13050858 | |
dc.identifier.uri | https://avesis.istanbul.edu.tr/api/publication/558fcd41-618a-4fcc-a979-da845de52373/file | |
dc.description.abstract | 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. | |
dc.language.iso | eng | |
dc.subject | Genetics | |
dc.subject | Tıp | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Health Sciences | |
dc.subject | Life Sciences | |
dc.subject | Genetics (clinical) | |
dc.subject | Molecular Biology | |
dc.subject | GENETİK VE HAYAT | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.title | The Modified Shields Classification and 12 Families with Defined DSPP Mutations | |
dc.type | Makale | |
dc.relation.journal | GENES | |
dc.contributor.department | University of Michigan System , , | |
dc.identifier.volume | 13 | |
dc.identifier.issue | 5 | |
dc.contributor.firstauthorID | 3433696 | |