Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.

ABSTRACT:

Aims

To characterize the genetic landscape and mutation spectrum of patients with corneal dystrophies (CDs) in a large Han ethnic Chinese Cohort with inherited eye diseases (IEDs).

Methods

Retrospective study. A large IED cohort was recruited in this study, including 69 clinically diagnosed CD patients, as well as other types of eye diseases patients and healthy family members as controls. The 792 genes on the Target_Eye_792_V2 chip were used to screen all common IEDs in our studies, including 22 CD-related genes.

Results

We identified 2334 distinct high-quality variants on 22 CD-related genes in a large IEDs cohort. A total of 21 distinct pathogenic or likely pathogenic mutations were identified, and the remaining 2313 variants in our IED cohort had no evidence of CD

SUBMITTER: Li W 

PROVIDER: S-EPMC8012530 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature