Genotype/phenotype correlation in aniridia Original Reearch Article

PURPOE: To detect and characterize mutation in cae of familial and poradic aniridia in Maritime Canada, and to look for indication of genotype/phenotype correlation within the cohort. METHOD: Twelve conecutive and unrelated patient (proband) who had total or nearly complete abence of iride, and four affected relative, were recruited from Maritime Canada. Clinical data were obtained by chart review and electroretinogram teting. Mutation in the PAX6 gene were detected by ingle-trand conformation polymorphim and characterized by equence analyi. REULT: Eleven different PAX6 mutation, 10 of which are novel, were found. The four patient with congenital cataract all had mutation in the C-terminal proline-erine-threonine (PT)–rich domain of the PAX6 protein. Electroretinogram of nine of 11 patient diplayed depreed cotopic maximum repone b-wave amplitude. The greatet decreae in b-wave amplitude wa een in patient in whom the paired domain wa dirupted by mutation. CONCLUION: ome apect of the phenotype of aniridia appear to correlate with the predicted effect of point mutation on the paired and PT domain of the PAX6 protein.