Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>The p.Pro17Ser identified in the family was a new pathogenic mutation. Our finding provided further understanding of the molecular mechanism of dentinogenesis imperfecta.</p>