Abstract: Objective To investigate the genetic characteristics of a family with congenital oligodontia and to find the possible disease-causing genes. Methods There were 3 generations, 17 members in all in this family. They accepted to cooperate and signed the informed consent form. The experimental protocol was approved by the Ethical Review Committee of School of Stomatology, China Medical University. Clinical examination was done for all the family members and panoramic radiograhs were taken. The peripheral blood samples were collected from the familial members. DNA samples were analyzed for genetic screening by gene chip technology. The methods of polymerase chain reaction (PCR) amplification and DNA sequencing were used to detect the mutation of suspected FGF20. Results This family with non-syndromic oligodontia was consecutive genetic in three generations without gender difference and the penetrance was 100%. It was diagnosed as an autosomal dominant inheritance; FGF20 might be the possible disease-causing gene from analyses of gene chip detection; but no mutation was found in FGF20 gene exons and exon-intron junctions as indicated by PCR. Conclusions The pathogenic mechanism of oligodontia is relatively complicated. It might be a polygenic disease which is regulated by multiple genes; gene chip technique has limitation in detecting the disease-causing gene of familial with congenital oligodontia.

Key words: congenital oligodontia, gene chip, PCR, FGF20