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Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth.
J Craniofac Genet Dev Biol. 1996 Jul-Sep; 16(3):156-63.JC

Abstract

Serial intraoral photographs, radiographs, and ground sections from an extracted upper permanent canine served to characterize dental abnormalities in a 15-year-old girl suffering from severe (type III) osteogenesis imperfecta (OI) due to a point mutation that substituted glycine 688 of the alpha 2(I) chain of collagen I by serine. Dental records showed that all deciduous teeth exhibited clinical and radiographic characteristics of dentinogenesis imperfecta (DI), whereas permanent teeth including the removed canine appeared normal, although pulp chambers contained unusually large denticles. Despite the unconspicuous clinical appearance of the canine, histologic sections revealed small, canal-like, hypomineralized hard tissue patches that lacked a regular tubular structure and occupied a narrow band of the bulk of normal circumpulpal dentin at about the level of the cemento-enamel junction. The finding that a mutation in the gene for the alpha 2(I) collagen chain with serious consequences in bone has only minor effects in teeth would suggest that odontoblasts, unlike osteoblasts, can largely compensate for this particular genetic defect, possibly by excluding the abnormal alpha 2(I) chains and forming alpha 1(I) homotrimeric collagen I. The discrepant consequences in deciduous as opposed to permanent teeth and the specific localization of the dentinal abnormalities in permanent teeth lead us to speculate that the exclusion of defective alpha 2(I) chains could depend on the developmental stage and/or the rate of extracellular matrix formation.

Authors+Show Affiliations

Institute of Oral Structural Biology, University of Zurich, Switzerland.No 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

8872706

Citation

Luder, H U., et al. "Mild Dental Findings Associated With Severe Osteogenesis Imperfecta Due to a Point Mutation in the Alpha 2(I) Collagen Gene Demonstrate Different Expression of the Genetic Defect in Bone and Teeth." Journal of Craniofacial Genetics and Developmental Biology, vol. 16, no. 3, 1996, pp. 156-63.
Luder HU, van Waes H, Raghunath M, et al. Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth. J Craniofac Genet Dev Biol. 1996;16(3):156-63.
Luder, H. U., van Waes, H., Raghunath, M., & Steinmann, B. (1996). Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth. Journal of Craniofacial Genetics and Developmental Biology, 16(3), 156-63.
Luder HU, et al. Mild Dental Findings Associated With Severe Osteogenesis Imperfecta Due to a Point Mutation in the Alpha 2(I) Collagen Gene Demonstrate Different Expression of the Genetic Defect in Bone and Teeth. J Craniofac Genet Dev Biol. 1996 Jul-Sep;16(3):156-63. PubMed PMID: 8872706.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teeth. AU - Luder,H U, AU - van Waes,H, AU - Raghunath,M, AU - Steinmann,B, PY - 1996/7/1/pubmed PY - 1996/7/1/medline PY - 1996/7/1/entrez SP - 156 EP - 63 JF - Journal of craniofacial genetics and developmental biology JO - J Craniofac Genet Dev Biol VL - 16 IS - 3 N2 - Serial intraoral photographs, radiographs, and ground sections from an extracted upper permanent canine served to characterize dental abnormalities in a 15-year-old girl suffering from severe (type III) osteogenesis imperfecta (OI) due to a point mutation that substituted glycine 688 of the alpha 2(I) chain of collagen I by serine. Dental records showed that all deciduous teeth exhibited clinical and radiographic characteristics of dentinogenesis imperfecta (DI), whereas permanent teeth including the removed canine appeared normal, although pulp chambers contained unusually large denticles. Despite the unconspicuous clinical appearance of the canine, histologic sections revealed small, canal-like, hypomineralized hard tissue patches that lacked a regular tubular structure and occupied a narrow band of the bulk of normal circumpulpal dentin at about the level of the cemento-enamel junction. The finding that a mutation in the gene for the alpha 2(I) collagen chain with serious consequences in bone has only minor effects in teeth would suggest that odontoblasts, unlike osteoblasts, can largely compensate for this particular genetic defect, possibly by excluding the abnormal alpha 2(I) chains and forming alpha 1(I) homotrimeric collagen I. The discrepant consequences in deciduous as opposed to permanent teeth and the specific localization of the dentinal abnormalities in permanent teeth lead us to speculate that the exclusion of defective alpha 2(I) chains could depend on the developmental stage and/or the rate of extracellular matrix formation. SN - 0270-4145 UR - https://www.unboundmedicine.com/medline/citation/8872706/Mild_dental_findings_associated_with_severe_osteogenesis_imperfecta_due_to_a_point_mutation_in_the_alpha_2_I__collagen_gene_demonstrate_different_expression_of_the_genetic_defect_in_bone_and_teeth_ L2 - http://www.diseaseinfosearch.org/result/5451 DB - PRIME DP - Unbound Medicine ER -