Tags

Type your tag names separated by a space and hit enter

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21.
J Dent Res. 2006 Apr; 85(4):329-33.JD

Abstract

Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin. Both conditions are autosomal-dominant and can be caused by mutations in the dentin sialophosphoprotein gene (DSPP, 4q21.3). We recruited 23 members of a four-generation kindred, including ten persons with dentin defects, and tested the hypothesis that these defects are linked to DSPP. The primary dentition showed amber discoloration, pulp obliteration, and severe attrition. The secondary dentition showed either pulp obliteration with bulbous crowns and gray discoloration or thistle-tube pulp configurations, normal crowns, and mild gray discoloration. Haplotype analyses showed no recombination between three 4q21-q24 markers and the disease locus. Mutational analyses identified no coding or intron junction sequence variations associated with affection status in DMP1, MEPE, or the DSP portion of DSPP. The defects in the permanent dentition were typically mild and consistent with a diagnosis of DD-II, but some dental features associated with DGI-II were also present. We conclude that DD-II and DGI-II are milder and more severe forms, respectively, of the same disease.

Authors+Show Affiliations

University of Michigan School of Dentistry, Ann Arbor, MI 48109-1078, USA.No affiliation info availableNo 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, Non-U.S. Gov't

Language

eng

PubMed ID

16567553

Citation

Beattie, M L., et al. "Phenotypic Variation in Dentinogenesis Imperfecta/dentin Dysplasia Linked to 4q21." Journal of Dental Research, vol. 85, no. 4, 2006, pp. 329-33.
Beattie ML, Kim JW, Gong SG, et al. Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res. 2006;85(4):329-33.
Beattie, M. L., Kim, J. W., Gong, S. G., Murdoch-Kinch, C. A., Simmer, J. P., & Hu, J. C. (2006). Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. Journal of Dental Research, 85(4), 329-33.
Beattie ML, et al. Phenotypic Variation in Dentinogenesis Imperfecta/dentin Dysplasia Linked to 4q21. J Dent Res. 2006;85(4):329-33. PubMed PMID: 16567553.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. AU - Beattie,M L, AU - Kim,J-W, AU - Gong,S-G, AU - Murdoch-Kinch,C A, AU - Simmer,J P, AU - Hu,J C-C, PY - 2006/3/29/pubmed PY - 2006/10/4/medline PY - 2006/3/29/entrez SP - 329 EP - 33 JF - Journal of dental research JO - J Dent Res VL - 85 IS - 4 N2 - Dentinogenesis imperfecta (DGI) and dentin dysplasia (DD) are allelic disorders that primarily affect the formation of tooth dentin. Both conditions are autosomal-dominant and can be caused by mutations in the dentin sialophosphoprotein gene (DSPP, 4q21.3). We recruited 23 members of a four-generation kindred, including ten persons with dentin defects, and tested the hypothesis that these defects are linked to DSPP. The primary dentition showed amber discoloration, pulp obliteration, and severe attrition. The secondary dentition showed either pulp obliteration with bulbous crowns and gray discoloration or thistle-tube pulp configurations, normal crowns, and mild gray discoloration. Haplotype analyses showed no recombination between three 4q21-q24 markers and the disease locus. Mutational analyses identified no coding or intron junction sequence variations associated with affection status in DMP1, MEPE, or the DSP portion of DSPP. The defects in the permanent dentition were typically mild and consistent with a diagnosis of DD-II, but some dental features associated with DGI-II were also present. We conclude that DD-II and DGI-II are milder and more severe forms, respectively, of the same disease. SN - 0022-0345 UR - https://www.unboundmedicine.com/medline/citation/16567553/Phenotypic_variation_in_dentinogenesis_imperfecta/dentin_dysplasia_linked_to_4q21_ L2 - https://journals.sagepub.com/doi/10.1177/154405910608500409?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -