Objective: To investigate aetiology of non-syndromic aligodontia in three members of a family by sequencing the MSX1 and PAX9 genes, which have been linked previously.
Methods: Two girls (13 missing teeth each) and their mother (11 missing teeth) had a distinctive loss of molars with no other phenotypic expression. Genomic DNAs were isolated from human whole blood samples using the standard procedures. Exons and flanking regions of the genes were amplified by PCR from genomic DNA using the designed primers, purified using the Wizard PCR Preps DNA Purification System (Promega) and sequenced using Thermosequenase Cy 5.0/5.5 kit (Amersham) and Open Gene System (Visible Genetics).
Results: Substitution of C for G in nucleotide position 570 of MSX1 in the daughters but normal sequence in the mother; indicating that the mutation hasn’t been inherited from the mother. Substitution of T for C in nucleotide position 717 of PAX9 in the mother only, which wouldn’t cause any change in the amino acid sequence of the protein produced.
Conclusions: Phenotype of oligodontia involving molar teeth is not related to mutations in coding sequence of neither MSX1 nor PAX9 in these patients.