DSPP mutation in dentinogenesis imperfecta Shields type II.

Abstract

We identified a nonsense mutation (Gln45stop) in exon 3 of the dentin sialophosphoprotein (DSPP) gene in a Chinese family with dentinogenesis imperfecta Shields type II (DGI-II), in which the affected members showed discoloration and severe attrition of their teeth, with obliterated pulp chambers.

• Authors: X Zhang, J Zhao, C Li, S Gao, C Qiu, P Liu, G Wu, B Qiang, W H Lo, Y Shen
• Journal: Nature genetics (Nat Genet) Vol. 27 Issue 2 Pg. 151-2 (Feb 2001) ISSN: 1061-4036 [Print] United States
• PMID: 11175779 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Extracellular Matrix Proteins
• Phosphoproteins
• Protein Precursors
• Sialoglycoproteins
• dentin sialophosphoprotein

Topics

• Asian People (genetics)
• China
• Dentinogenesis Imperfecta (classification, genetics)
• Extracellular Matrix Proteins
• Female
• Humans
• Male
• Molecular Sequence Data
• Mutation
• Pedigree
• Phosphoproteins (genetics)
• Protein Precursors (genetics)
• Sialoglycoproteins (genetics)