Mutational analysis of MSX1 and PAX9 genes in Portuguese families with maxillary lateral incisor agenesis

摘要

The observation that certain patterns of tooth agenesis occur more frequently in individuals of the same family may suggest the existence of predisposing genetic factors. The aim of this study was to search for mutations in the PAX9 and MSX1 genes and to investigate their potential association with the maxillary lateral incisor agenesis (MLIA) phenotype in 12 Portuguese families, a total of 52 individuals, 12 probands and 40 relatives (eight of which had MLIA). Twenty-three of the subjects were male and 29 female with an age range of 10–75 years. The control group comprised random DNA samples of 91 Portuguese individuals.