Autosomal Dominant Cornea Plana is not Associated with Pathogenic Mutations in<i>DCN, DSPG3, FOXC1, KERA, LUM,</i>or<i>PITX2</i>

Abstract

Although missense and nonsense mutations in KERA are associated with CNA2, we did not identify any of the previously described mutations or novel mutations that segregated with the disease phenotype in a family with CNA1. In addition, no pathogenic sequence variations were found in DCN, DSPG3, LUM, PITX2 and FOXC1, which have also been implicated in corneal and anterior segment dysgenesis.