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.