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Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.
Clin Genet. 2011 Apr; 79(4):378-84.CG

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.

Authors+Show Affiliations

Department of Cell and Developmental Biology & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20618350

Citation

Lee, K-E, et al. "Novel Dentin Phosphoprotein Frameshift Mutations in Dentinogenesis Imperfecta Type II." Clinical Genetics, vol. 79, no. 4, 2011, pp. 378-84.
Lee KE, Kang HY, Lee SK, et al. Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. Clin Genet. 2011;79(4):378-84.
Lee, K. E., Kang, H. Y., Lee, S. K., Yoo, S. H., Lee, J. C., Hwang, Y. H., Nam, K. H., Kim, J. S., Park, J. C., & Kim, J. W. (2011). Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. Clinical Genetics, 79(4), 378-84. https://doi.org/10.1111/j.1399-0004.2010.01483.x
Lee KE, et al. Novel Dentin Phosphoprotein Frameshift Mutations in Dentinogenesis Imperfecta Type II. Clin Genet. 2011;79(4):378-84. PubMed PMID: 20618350.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II. AU - Lee,K-E, AU - Kang,H-Y, AU - Lee,S-K, AU - Yoo,S-H, AU - Lee,J-C, AU - Hwang,Y-H, AU - Nam,K H, AU - Kim,J-S, AU - Park,J-C, AU - Kim,J-W, PY - 2010/7/13/entrez PY - 2010/7/14/pubmed PY - 2011/7/23/medline SP - 378 EP - 84 JF - Clinical genetics JO - Clin Genet VL - 79 IS - 4 N2 - 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. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/20618350/Novel_dentin_phosphoprotein_frameshift_mutations_in_dentinogenesis_imperfecta_type_II_ L2 - https://doi.org/10.1111/j.1399-0004.2010.01483.x DB - PRIME DP - Unbound Medicine ER -