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Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.
Hum Genet. 2004 Apr; 114(5):491-8.HG

Abstract

Dentinogenesis imperfecta (DI) type II, an inherited disorder affecting dentin, has been linked to mutations in the dentin sialophosphoprotein (DSPP) gene on chromosome 4q21. The gene product is cleaved into two dentin-specific matrix proteins, dentin sialoprotein (DSP) and dentin phosphoprotein. The aim of this investigation was to study genotypes and phenotypes in two affected families with special reference to clinical, radiographic, and histopathologic manifestations. Seven affected members of Family A and five of Family B were documented clinically and radiographically; 14 and 10 teeth, respectively, were available for histopathologic investigation and prepared for ground sections, which were assessed semiquantitatively for dysplastic manifestations in the dentin according to the scoring system, dysplastic dentin score (DDS). Venous blood samples were collected from six affected and ten unaffected members of Family A, and from eight affected and six unaffected members of Family B. Genomic DNA was extracted and used for sequence analyses. The two families presented with different missense mutations. An Arg68Trp missense mutation in the DSP part of the gene was revealed in all six analyzed affected individuals in Family A. This mutation was not present in any of the ten healthy members. In Family B, an Ala15Val missense mutation involving the last residue of the signal peptide was found in all eight affected but in none of the six healthy members. The clinical and radiographic disturbances and DDS were more severe in Family B. The data indicate the presence of a genotype-phenotype correlation in DI type II.

Authors+Show Affiliations

Department of Pediatrics, Pediatric Endocrine Research Unit, B62, Huddinge University Hospital, Karolinska Institutet, SE-141 86 Stockholm, Sweden. barbro.malmgren@telia.comNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

14758537

Citation

Malmgren, B, et al. "Clinical, Histopathologic, and Genetic Investigation in Two Large Families With Dentinogenesis Imperfecta Type II." Human Genetics, vol. 114, no. 5, 2004, pp. 491-8.
Malmgren B, Lindskog S, Elgadi A, et al. Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet. 2004;114(5):491-8.
Malmgren, B., Lindskog, S., Elgadi, A., & Norgren, S. (2004). Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Human Genetics, 114(5), 491-8.
Malmgren B, et al. Clinical, Histopathologic, and Genetic Investigation in Two Large Families With Dentinogenesis Imperfecta Type II. Hum Genet. 2004;114(5):491-8. PubMed PMID: 14758537.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. AU - Malmgren,B, AU - Lindskog,S, AU - Elgadi,A, AU - Norgren,S, Y1 - 2004/02/03/ PY - 2003/09/19/received PY - 2003/12/23/accepted PY - 2004/2/6/pubmed PY - 2004/6/5/medline PY - 2004/2/6/entrez SP - 491 EP - 8 JF - Human genetics JO - Hum Genet VL - 114 IS - 5 N2 - Dentinogenesis imperfecta (DI) type II, an inherited disorder affecting dentin, has been linked to mutations in the dentin sialophosphoprotein (DSPP) gene on chromosome 4q21. The gene product is cleaved into two dentin-specific matrix proteins, dentin sialoprotein (DSP) and dentin phosphoprotein. The aim of this investigation was to study genotypes and phenotypes in two affected families with special reference to clinical, radiographic, and histopathologic manifestations. Seven affected members of Family A and five of Family B were documented clinically and radiographically; 14 and 10 teeth, respectively, were available for histopathologic investigation and prepared for ground sections, which were assessed semiquantitatively for dysplastic manifestations in the dentin according to the scoring system, dysplastic dentin score (DDS). Venous blood samples were collected from six affected and ten unaffected members of Family A, and from eight affected and six unaffected members of Family B. Genomic DNA was extracted and used for sequence analyses. The two families presented with different missense mutations. An Arg68Trp missense mutation in the DSP part of the gene was revealed in all six analyzed affected individuals in Family A. This mutation was not present in any of the ten healthy members. In Family B, an Ala15Val missense mutation involving the last residue of the signal peptide was found in all eight affected but in none of the six healthy members. The clinical and radiographic disturbances and DDS were more severe in Family B. The data indicate the presence of a genotype-phenotype correlation in DI type II. SN - 0340-6717 UR - https://www.unboundmedicine.com/medline/citation/14758537/Clinical_histopathologic_and_genetic_investigation_in_two_large_families_with_dentinogenesis_imperfecta_type_II_ L2 - https://dx.doi.org/10.1007/s00439-004-1084-z DB - PRIME DP - Unbound Medicine ER -