detection of a rare axin2 variant in an iranian family with hypodontia and oligodontia

Background. hypodontia, or the absence of one or more teeth during tooth formation, is a highly prevalent dental anomaly. nevertheless, the main causes are still unknown. mutations in pax9, msx1, wnt10a, and axin2 genes are most commonly associated with non-syndromic tooth agenesis in the literature. this study investigated these candidate genes in an iranian family with non-syndromic hypodontia and oligodontia. methods. peripheral blood samples of the proband and her family members were collected, and dna extractions using the salting-out method were carried out. in addition, polymerase chain reaction (pcr) and sanger sequencing for candidate genes were performed. results. a missense variant (rs4904210) was identified in the pax9 gene, with one heterozygous missense variant (rs2240308) and one stop-gained variant (rs121908568) in the axin2 gene. conclusion. by surveying similar studies and analyzing the variant in bioinformatics websites, we concluded that the heterozygous stop-gained variant rs121908568 in exon 8 of the axin2 gene could be responsible for tooth agenesis in the iranian population.