Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis.

[dentinogenesis imperfecta]

In this study , through linkage analysis of a four -generation Chinese family with multiple members afflicted with DGI (type II ), we identified a novel missense mutation in DSPP . The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leucine residue (c .50 C >T , p .P 17 L , g .50 C >T ). To assess the potential effects of this novel mutation , we utilized various bioinformatics analysis programs . The results indicate that the mutation likely affects protein cleavage /trafficking . We also analyzed previously reported mutations of DSPP . In summary , our finding supports that the genomic sequence that corresponds to the P 17 residue of DSPP is a mutational hotspot and P 17 may be critical for the function of DSPP .