A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II
dc.contributor.author | Hu, Jan C-C. | en_US |
dc.contributor.author | Jang, Ki-Taeg | en_US |
dc.contributor.author | Lee, S.-H. | en_US |
dc.contributor.author | Kim, C. -C. | en_US |
dc.contributor.author | Simmer, James P. | en_US |
dc.contributor.author | Hahn, Se-Hyun | en_US |
dc.contributor.author | Kim, J. -W. | en_US |
dc.contributor.author | Nam, S. -H. | en_US |
dc.date.accessioned | 2006-09-11T19:09:53Z | |
dc.date.available | 2006-09-11T19:09:53Z | |
dc.date.issued | 2004-08 | en_US |
dc.identifier.citation | Kim, J.-W.; Nam, S.-H.; Jang, K.-T.; Lee, S.-H.; Kim, C.-C.; Hahn, S.-H.; Hu, J. C.-C.; Simmer, J. P.; (2004). "A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II." Human Genetics 115(3): 248-254. <http://hdl.handle.net/2027.42/47593> | en_US |
dc.identifier.issn | 0340-6717 | en_US |
dc.identifier.issn | 1432-1203 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/47593 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15241678&dopt=citation | en_US |
dc.description.abstract | The dentin sialophosphoprotein (DSPP) gene (4q21.3) encodes two major noncollagenous dentin matrix proteins: dentin sialoprotein (DSP) and dentin phosphoprotein (DPP). Defects in the human gene encoding DSPP cause inherited dentin defects, and these defects can be associated with bilateral progressive high-frequency sensorineural hearing loss. Clinically, five different patterns of inherited dentin defects are distinguished and are classified as dentinogenesis imperfecta (DGI) types I, II, and III, and dentin dysplasia types I and II. The genetic basis for this clinical heterogeneity is unknown. Among the 11 members recruited from the studied kindred, five were affected with autosomal dominant DGI type II. The mutation (g.1188C→G, IVS2-3C→G) lay in the third from the last nucleotide of intron 2 and changed its sequence from CAG to GAG. The mutation was correlated with the affection status and was absent in 104 unaffected individuals (208 alleles) with the same ethnic and geological background. The proband was in the primary dentition stage and presented with multiple pulp exposures. The occlusal surface of his dental enamel was generally abraded, and the dentin was heavily worn and uniformly shaded brown. The dental pulp chambers appeared originally to be within normal limits without any sign of obliteration, but over time (by age 4), the pulp chambers became partially or completely obliterated. The oldest affected member (age 59) showed mild hearing loss at high-frequency (8 kHz). Permanent dentition was severely affected in the adults, who had advanced dental attrition, premature loss of teeth, and extensive dental reconstruction. | en_US |
dc.format.extent | 474588 bytes | |
dc.format.extent | 3115 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.language.iso | en_US | |
dc.publisher | Springer-Verlag | en_US |
dc.subject.other | LifeSciences | en_US |
dc.title | A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbsecondlevel | Genetics | en_US |
dc.subject.hlbsecondlevel | Biological Chemistry | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Department of Biological and Material Sciences, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA | en_US |
dc.contributor.affiliationum | Department of Biological and Material Sciences, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA | en_US |
dc.contributor.affiliationum | Department of Biological and Material Sciences, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA; Department of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Korea | en_US |
dc.contributor.affiliationother | Department of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Korea | en_US |
dc.contributor.affiliationother | Department of Pediatric Dentistry, College of Dentistry, Kyungpook National University, 2-188-1 Samduk-Dong, Jung-Gu, Daegu, 700-412, Korea | en_US |
dc.contributor.affiliationother | Department of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Korea | en_US |
dc.contributor.affiliationother | Department of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Korea | en_US |
dc.contributor.affiliationother | Department of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Korea | en_US |
dc.contributor.affiliationumcampus | Ann Arbor | en_US |
dc.identifier.pmid | 15241678 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/47593/1/439_2004_Article_1143.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1007/s00439-004-1143-5 | en_US |
dc.identifier.source | Human Genetics | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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