Identification of the First De Novo UBIAD1 Gene Mutation Associated with Schnyder Corneal Dystrophy

Figure 1

Pedigree of family with Schnyder corneal dystrophy. Filled symbols represent affected individuals and unfilled symbols represent unaffected individuals. Question marks indicate individuals of unknown affected status. The proband is designated with a black arrowhead. Asterisks indicate individuals in whom UBIAD1 screening was performed; below these symbols, the results are given as wild type (+) or the identified mutation is shown. Chromatograms demonstrate the results of sequencing UBIAD1 in the parents of the proband and the proband, in whom the identified heterozygous c.308C>T missense mutation is indicated with a red arrow.