Purpose: To examine the carbohydrate sulfotransferase 6 (CHST6) gene in Chinese patients with macular corneal dystrophy (MCD).
Methods: Nineteen unrelated Chinese families with MCD, including 24 patients and 3 unaffected relatives, were examined. Genomic DNA was extracted from peripheral blood leukocytes. The coding region of the CHST6 gene was amplified by the polymerase chain reaction, and the DNA fragments were directly sequenced. Fifty unrelated normal Chinese volunteers served as the controls.
Results: Eighteen different mutations in the CHST6 gene (including 15 novel mutations) were identified, of which 12 were missense mutations, 5 were nonsense mutations, and 1 was a frameshift mutation. Six families had homozygous mutation, and 13 families had compound heterozygous mutation. None of these mutations were detected in the normal controls.
Conclusions: CHST6 mutations may be responsible for the pathogenesis of MCD in Chinese patients. The Q298X mutation detected in 5 of 19 families (6 of 38 alleles, 15.8%) may be the founder mutation in Chinese patients. However, our findings also indicate a high level of allelic heterogeneity of the CHST6 gene in Chinese patients and in other ethnic groups.