MUTATIONS IN CORNEAL CARBOHYDRATE SULFOTRANSFERASE 6 GENE (CHST6) IN IRANIAN MACULAR CORNEAL DYSTROPHY (MCD) PATIENTS: A REPORT OF 7 PATIENTS FROM IRAN

Objective Macular Corneal Dystrophy (MCD) is a rare autosomal recessive disorder affecting the stroma of cornea. Most cases of MCD are caused by mutations in CHST6 gene. The aim of this study was to determine mutations in the carbohydrate sulfotransferase 6 gene (CHST6) through genetic analysis of 7 Iranian patients with MCD. Materials & Methods We screened the CHST6 gene to determine the range of pathogenic mutations. Genomic DNA was extracted from peripheral blood leukocytes. The coding regions of the CHST6 gene were amplified using three pairs of primers, and directly sequenced in the final step. Results Four mutations were found to affect the translated protein and each of them corresponded to a particular disease haplotype that has been previously reported.