Genetic screening in a Chinese family with oligodontia

Objective: To investigate the mutational sites in chromosome of patients with oligodontia of non-syndrome and to provide a molecular basis for studying the disease. Methods: A family with congenital non-syndromic oligodontia was found, and the pedigree was drawn on the basis of the phenotype and disease characteristics of the family. The susceptibility genes PAX 9, AXIN 2, and MSX 1 were studied by polymerase chain reaction in order to find mutational sites. Results: The non-syndromic oligodontia in the family was inherited in an autosome-dominant manner. The patients lacked teeth in different numbers and had the cone-shape tooth. One mutation was found in a patient in intron 1 of PAX 9 gene as a missense mutation of G/T. Mutation was not found in MSX 1 gene. Synonymous mutation of polymorphism site C/T was found in exon 7 of AXIN 2 gene. Conclusion: The oligodontia in this family was caused by the mutations in PAX 9 and AXIN 2 genes.