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

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dc.contributor.authorKim, J.-W.-
dc.contributor.authorNam, S.-H.-
dc.contributor.authorJang, K.-T.-
dc.contributor.authorLee, S.-H.-
dc.contributor.authorKim, C.-C.-
dc.contributor.authorHahn, S.-H.-
dc.contributor.authorHu, J.-C.-
dc.contributor.authorSimmer, J. P.-
dc.date.accessioned2010-03-31T07:20:20Z-
dc.date.available2010-03-31T07:20:20Z-
dc.date.issued2004-08-
dc.identifier.citationHum Genet. 2004;115(3):248-54en
dc.identifier.issn0340-6717-
dc.identifier.urihttps://hdl.handle.net/10371/62232-
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
dc.description.sponsorshipWe thank all the family members for their
cooperation, and the students of Seoul National University, School
of Dentistry for donating their blood for this study. This
investigation was supported in part by the Foundation of the
American Academy of Pediatric Dentistry, and USPHS Research
Grants DE12769 and DE11301 from the National Institute of Dental
and Craniofacial Research, National Institutes of Health, Bethesda,
USA.
en
dc.language.isoenen
dc.publisherSpringer Verlagen
dc.titleA novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type IIen
dc.typeArticleen
dc.identifier.doi10.1007/s00439-004-1143-5-
Appears in Collections:
College of Dentistry/School of Dentistry (치과대학/치의학대학원)Dept. of Dentistry (치의학과)Journal Papers (저널논문_치의학과)
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