Add like
Add dislike
Add to saved papers

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

Aging 2019 Februrary 5
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.

Full text links

We have located links that may give you full text access.
Can't access the paper?
Try logging in through your university/institutional subscription. For a smoother one-click institutional access experience, please use our mobile app.

For the best experience, use the Read mobile app

Mobile app image

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app

All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.

By using this service, you agree to our terms of use and privacy policy.

Your Privacy Choices Toggle icon

You can now claim free CME credits for this literature searchClaim now

Get seemless 1-tap access through your institution/university

For the best experience, use the Read mobile app