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.