Human Genetics

, Volume 114, Issue 5, pp 491–498

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II

Original Investigation

DOI: 10.1007/s00439-004-1084-z

Cite this article as:
Malmgren, B., Lindskog, S., Elgadi, A. et al. Hum Genet (2004) 114: 491. doi:10.1007/s00439-004-1084-z


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.

Copyright information

© Springer-Verlag 2004

Authors and Affiliations

  • B. Malmgren
    • 1
    • 2
  • S. Lindskog
    • 2
    • 3
  • A. Elgadi
    • 1
  • S. Norgren
    • 1
  1. 1.Department of Pediatrics, Pediatric Endocrine Research Unit, B62, Huddinge University HospitalKarolinska InstitutetStockholmSweden
  2. 2.Department of Oral Pathology, School of DentistryKarolinska InstitutetStockholmSweden
  3. 3.Department of Oncology and PathologyKarolinska InstitutetStockholmSweden

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