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.
Keywords: Macular Corneal Dystrophy (MCD), Iranian Patients, Carbohydrate
Sulfotransferase 6 Gene (CHST6)
