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Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.
Oral Dis. 2011 Apr; 17(3):314-9.OD

Abstract

OBJECTIVE

Hereditary dentin defects can be grouped into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia. Tooth enamel is considered normal in patients with hereditary dentin defects, but is easily worn down and fractured due to DSPP mutation-induced altered dentin properties. The purposes of this study were to identify genetic cause of a family with type II DGI and enamel defects.

MATERIALS AND METHODS

We identified a family with type II DGI and a unique form of hypoplastic enamel defect affecting occlusal third of the crown. Family members were recruited for the genetic analysis and DNA was obtained from peripheral whole blood.

RESULTS

Mutational analysis revealed a T to A transversion in exon 3 of the DSPP (c.53T>A, p.V18D). Haplotype analysis showed that the same mutation arose separately in two different families having DGI with similar enamel defects, indicating that this phenotype is associated with this specific DSPP mutation. Clinical features suggest that enamel formation was affected in the affected individuals during early amelogenesis, in addition to the dentin defect.

CONCLUSIONS

We observed that a DSPP gene mutation not only influences dentinogenesis but also affects early stage amelogenesis.

Authors+Show Affiliations

Department of Cell and Developmental Biology & Dental Research, 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 available

Pub Type(s)

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

Language

eng

PubMed ID

21029264

Citation

Lee, S-K, et al. "Identification of the DSPP Mutation in a New Kindred and Phenotype-genotype Correlation." Oral Diseases, vol. 17, no. 3, 2011, pp. 314-9.
Lee SK, Lee KE, Hwang YH, et al. Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. Oral Dis. 2011;17(3):314-9.
Lee, S. K., Lee, K. E., Hwang, Y. H., Kida, M., Tsutsumi, T., Ariga, T., Park, J. C., & Kim, J. W. (2011). Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. Oral Diseases, 17(3), 314-9. https://doi.org/10.1111/j.1601-0825.2010.01760.x
Lee SK, et al. Identification of the DSPP Mutation in a New Kindred and Phenotype-genotype Correlation. Oral Dis. 2011;17(3):314-9. PubMed PMID: 21029264.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation. AU - Lee,S-K, AU - Lee,K-E, AU - Hwang,Y-H, AU - Kida,M, AU - Tsutsumi,T, AU - Ariga,T, AU - Park,J-C, AU - Kim,J-W, Y1 - 2010/10/28/ PY - 2010/10/30/entrez PY - 2010/10/30/pubmed PY - 2011/7/27/medline SP - 314 EP - 9 JF - Oral diseases JO - Oral Dis VL - 17 IS - 3 N2 - OBJECTIVE: Hereditary dentin defects can be grouped into three types of dentinogenesis imperfecta (DGI) and two types of dentin dysplasia. Tooth enamel is considered normal in patients with hereditary dentin defects, but is easily worn down and fractured due to DSPP mutation-induced altered dentin properties. The purposes of this study were to identify genetic cause of a family with type II DGI and enamel defects. MATERIALS AND METHODS: We identified a family with type II DGI and a unique form of hypoplastic enamel defect affecting occlusal third of the crown. Family members were recruited for the genetic analysis and DNA was obtained from peripheral whole blood. RESULTS: Mutational analysis revealed a T to A transversion in exon 3 of the DSPP (c.53T>A, p.V18D). Haplotype analysis showed that the same mutation arose separately in two different families having DGI with similar enamel defects, indicating that this phenotype is associated with this specific DSPP mutation. Clinical features suggest that enamel formation was affected in the affected individuals during early amelogenesis, in addition to the dentin defect. CONCLUSIONS: We observed that a DSPP gene mutation not only influences dentinogenesis but also affects early stage amelogenesis. SN - 1601-0825 UR - https://www.unboundmedicine.com/medline/citation/21029264/Identification_of_the_DSPP_mutation_in_a_new_kindred_and_phenotype_genotype_correlation_ L2 - https://doi.org/10.1111/j.1601-0825.2010.01760.x DB - PRIME DP - Unbound Medicine ER -