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Macular corneal dystrophy (MCD) is an autosomal recessive disease featured by bilateral progressive stromal clouding and loss of vision, consequently necessitating corneal transplantation. Variants in CHST6 gene have been recognized as the most critical genetic components in MCD. Although many CHST6 variants have been described until now, the detailed mechanisms underlying MCD are still far from understood. In this study, we integrated all the reported CHST6 variants described in 408 MCD cases, and performed a comprehensive evaluation to better illustrate the causality of these variants. The results showed that majority of these variants (165 out of 181) could be classified as pathogenic or likely pathogenic. Interestingly, we also identified several disease causal variants with ethnic specificity. In addition, the results underscored the strong correlation between mutant frequency and residue conservation in the general population (Spearman's correlation coefficient = -0.311, P = 1.20E-05), thus providing potential candidate targets for further genetic manipulation. The current study highlighted the demand of further functional investigations to evaluate the causality of CHST6 variants, so as to promote earlier accurate diagnosis of MCD and future development of potential targets for genetic therapy.

A comprehensive evaluation of 181 reported CHST6 variants in patients with macular corneal dystrophy