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

Cited 85 time in Web of Science Cited 89 time in Scopus
Authors
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.
Issue Date
2004
Publisher
Springer Berlin / Heidelberg
Citation
AMERICAN JOURNAL OF HUMAN GENETICS (2004) 115: 248-254
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.1188CG, IVS2-3CG) 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.
ISSN
Springer Verlag
Language
English
URI
https://hdl.handle.net/10371/48034
DOI
https://doi.org/10.1007/s00439-004-1143-5
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College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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