5 | CONCLUSION
The study identified a new EDAR mutation c.338G>A (Cys113Tyr), and both conservative and pathogenic analyses suggest that this mutation is highly pathogenic. In addition, we studied previously-reported EDAR mutations and summarized their genotype-phenotype correlation in NSTA patients. This allowed us to expand the EDAR mutation spectrum as well as providing a genetic basis for the pathogenesis of congenital tooth agenesis. This research could help in preconception genetic counseling, prenatal screening and fetus diagnosis, which contribute to disease status prediction in NSTA families.