Show simple item record

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II

dc.contributor.authorHu, Jan C-C.en_US
dc.contributor.authorJang, Ki-Taegen_US
dc.contributor.authorLee, S.-H.en_US
dc.contributor.authorKim, C. -C.en_US
dc.contributor.authorSimmer, James P.en_US
dc.contributor.authorHahn, Se-Hyunen_US
dc.contributor.authorKim, J. -W.en_US
dc.contributor.authorNam, S. -H.en_US
dc.date.accessioned2006-09-11T19:09:53Z
dc.date.available2006-09-11T19:09:53Z
dc.date.issued2004-08en_US
dc.identifier.citationKim, 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.issn0340-6717en_US
dc.identifier.issn1432-1203en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/47593
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=15241678&dopt=citationen_US
dc.description.abstractThe 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.extent474588 bytes
dc.format.extent3115 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.language.isoen_US
dc.publisherSpringer-Verlagen_US
dc.subject.otherLifeSciencesen_US
dc.titleA novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type IIen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelMolecular, Cellular and Developmental Biologyen_US
dc.subject.hlbsecondlevelGeneticsen_US
dc.subject.hlbsecondlevelBiological Chemistryen_US
dc.subject.hlbtoplevelScienceen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumDepartment of Biological and Material Sciences, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USAen_US
dc.contributor.affiliationumDepartment of Biological and Material Sciences, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USAen_US
dc.contributor.affiliationumDepartment 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, Koreaen_US
dc.contributor.affiliationotherDepartment of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Koreaen_US
dc.contributor.affiliationotherDepartment of Pediatric Dentistry, College of Dentistry, Kyungpook National University, 2-188-1 Samduk-Dong, Jung-Gu, Daegu, 700-412, Koreaen_US
dc.contributor.affiliationotherDepartment of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Koreaen_US
dc.contributor.affiliationotherDepartment of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Koreaen_US
dc.contributor.affiliationotherDepartment of Pediatric Dentistry and Dental Research Institute, College of Dentistry, Seoul National University, 28-2 Yongon-Dong, Chongno-Gu, Seoul, 110-768, Koreaen_US
dc.contributor.affiliationumcampusAnn Arboren_US
dc.identifier.pmid15241678en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/47593/1/439_2004_Article_1143.pdfen_US
dc.identifier.doihttp://dx.doi.org/10.1007/s00439-004-1143-5en_US
dc.identifier.sourceHuman Geneticsen_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


Files in this item

Show simple item record

Remediation of Harmful Language

The University of Michigan Library aims to describe library materials in a way that respects the people and communities who create, use, and are represented in our collections. Report harmful or offensive language in catalog records, finding aids, or elsewhere in our collections anonymously through our metadata feedback form. More information at Remediation of Harmful Language.

Accessibility

If you are unable to use this file in its current format, please select the Contact Us link and we can modify it to make it more accessible to you.