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Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.
J Dent Res. 2008 Dec; 87(12):1108-11.JD

Abstract

Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC) that falls within the portion of the DSPP repeat domain previously associated solely with the DGI phenotype. This new frameshift mutation shows that overlapping DSPP mutations can give rise to either DGI or DD phenotypes. Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears to be dependent on an as-yet-undescribed genetic modifier closely linked to DSPP.

Authors+Show Affiliations

Craniofacial and Skeletal Diseases Branch, NIDCR, NIH, DHHS, 9000 Rockville Pike, Bldg. 30, Bethesda, MD 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural

Language

eng

PubMed ID

19029076

Citation

McKnight, D A., et al. "Overlapping DSPP Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta." Journal of Dental Research, vol. 87, no. 12, 2008, pp. 1108-11.
McKnight DA, Simmer JP, Hart PS, et al. Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. J Dent Res. 2008;87(12):1108-11.
McKnight, D. A., Simmer, J. P., Hart, P. S., Hart, T. C., & Fisher, L. W. (2008). Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. Journal of Dental Research, 87(12), 1108-11.
McKnight DA, et al. Overlapping DSPP Mutations Cause Dentin Dysplasia and Dentinogenesis Imperfecta. J Dent Res. 2008;87(12):1108-11. PubMed PMID: 19029076.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta. AU - McKnight,D A, AU - Simmer,J P, AU - Hart,P S, AU - Hart,T C, AU - Fisher,L W, PY - 2008/11/26/pubmed PY - 2009/1/14/medline PY - 2008/11/26/entrez SP - 1108 EP - 11 JF - Journal of dental research JO - J Dent Res VL - 87 IS - 12 N2 - Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders due to mutations in DSPP. Typically, the phenotype breeds true within a family. Recently, two reports showed that 3 different net -1 bp frameshift mutations early in DSPP's repeat domain caused DD, whereas 6 more 3' frameshift mutations were associated with DGI. Here we identify a DD kindred with a novel -1 bp frameshift (c.3141delC) that falls within the portion of the DSPP repeat domain previously associated solely with the DGI phenotype. This new frameshift mutation shows that overlapping DSPP mutations can give rise to either DGI or DD phenotypes. Furthermore, the consistent kindred presentation of the DD or DGI phenotype appears to be dependent on an as-yet-undescribed genetic modifier closely linked to DSPP. SN - 1544-0591 UR - https://www.unboundmedicine.com/medline/citation/19029076/Overlapping_DSPP_mutations_cause_dentin_dysplasia_and_dentinogenesis_imperfecta_ L2 - https://journals.sagepub.com/doi/10.1177/154405910808701217?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -