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Related Experiment Videos

DSPP mutation in dentinogenesis imperfecta Shields type II.

X Zhang1, J Zhao, C Li

  • 1National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences/Peking Union Medical College, Beijing, China.

Nature Genetics
|February 15, 2001
PubMed
Summary
This summary is machine-generated.

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A nonsense mutation in the dentin sialophosphoprotein (DSPP) gene was found in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II). This genetic defect caused tooth discoloration, severe attrition, and obliterated pulp chambers in affected individuals.

Area of Science:

  • Genetics
  • Dentistry
  • Biochemistry

Background:

  • Dentinogenesis imperfecta Shields type II (DGI-II) is a rare inherited disorder affecting dentin formation.
  • The dentin sialophosphoprotein (DSPP) gene plays a crucial role in dentin mineralization and structure.

Purpose of the Study:

  • To identify the genetic cause of DGI-II in a Chinese family.
  • To investigate the specific mutation within the DSPP gene responsible for the observed dental phenotype.

Main Methods:

  • Genetic analysis of the DSPP gene in affected family members.
  • Sequencing of exon 3 of the DSPP gene.
  • Clinical examination of affected individuals.

Main Results:

  • A nonsense mutation, Gln45stop, was identified in exon 3 of the DSPP gene.

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  • Affected individuals exhibited characteristic DGI-II symptoms: tooth discoloration, severe attrition, and obliterated pulp chambers.

    • Conclusions:

    • The identified nonsense mutation in the DSPP gene is causative for DGI-II in this Chinese family.
    • DSPP mutations are a significant factor in the pathogenesis of dentinogenesis imperfecta.