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Novel dentin phosphoprotein frameshiftmutations in dentinogenesis imperfecta type II
Cited 19 time in
Web of Science
Cited 21 time in Scopus
- Authors
- Issue Date
- 2011-03
- Publisher
- Wiley-Blackwell
- Citation
- CLINICAL GENETICS Vol.79 No.1, pp. 378-384
- Keywords
- 복합학
; dentin dysplasia
; dentin
sialophosphoprotein ; dentinogenesis
imperfecta ; frameshift mutation
- Abstract
- The dentin sialophosphoprotein (DSPP) gene encodes the most abundant
non-collagenous protein in tooth dentin and DSPP protein is cleaved
into several segments including the highly phosphorylated dentin phosphoprotein
(DPP). Mutations in the DSPP gene have been solely related to
non-syndromic form of hereditary dentin defects. We recruited three Korean
families with dentinogenesis imperfecta (DGI) type II and sequenced the
exons and exon–intron boundaries of the DSPP gene based on the candidate
gene approach. Direct sequencing of PCR products and allele-specific
cloning of the highly repetitive exon 5 revealed novel single base pair (bp)
deletional mutations (c.2688delT and c.3560delG) introducing hydrophobic
amino acids in the hydrophilic repeat domain of the DPP coding region.
All affected members of the three families showed exceptionally rapid
pulp chambers obliteration, even before tooth eruption. Individuals with
the c.3560delG mutation showed only mild, yellowish tooth discoloration,
in contrast to the affected individuals from two families with c.2688delT
mutation. We believe that these results will help us to understand the molecular
pathogenesis of DGI type II as well as the normal process of dentin
biomineralization.
- ISSN
- 0009-9163
- Language
- English
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