Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.

@article{McKnight2008OverlappingDM,
  title={Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.},
  author={Dianalee A McKnight and James P Simmer and Patricia S. Hart and Thomas Charles Hart and Larry Warren Fisher},
  journal={Journal of dental research},
  year={2008},
  volume={87 12},
  pages={
          1108-11
        }
}
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… CONTINUE READING

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A comprehensive analysis of normal variation and disease - causing mutations in the human DSPP gene

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