Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta

Objective To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family. Methods The molecular change of the disease in the family was analyzed through the clinical examination, linkage analysis, mutational screening of the DSPP gene and restriction fragment length polymorphism analysis. Results The disease related gene was completely linked with microsatellite marker D4S1534. We found a novel mutation in the first exon of the DSPP gene (c. 49C→T,p. Pro17Ser). All patients in the family had the mutation, while this mutation was not observed in the normal individuals of this family and 100 unrelated controls. Conclusion The p. Pro17Ser identified in the family was a new pathogenic mutation. Our finding provided further understanding of the molecular mechanism of dentinogenesis Imperfecta. Key words: linkage analysis;  restriction fragment length polymorphism;  pathogenic gene; mutation analysis;  dentinogenesis imperfecta;  DSPP gene