Screening and Functional Analysis of TEK Mutations in Chinese Children With Primary Congenital Glaucoma.

ABSTRACT: Purposes: Recent studies have suggested that loss-of-function mutations of the tunica intima endothelial receptor tyrosine kinase (TEK) are responsible for approximately 5% of primary congenital glaucoma (PCG) cases in diverse populations. However, the causative role of TEK mutations has not been studied in Chinese PCG patients. Here, we report the mutation spectrum of TEK after screening a large cohort of PCG patients of Chinese Han origin and analyze the identified variants in functional assays. Methods: TEK-targeted next-generation sequencing (NGS) was performed in 200 PCG patients. Candidate variants were prioritized by mutation type and allele frequency in public datasets. Plasmids containing wild type and identified variants of TEK were constructed and used to assess pr

SUBMITTER: Qiao Y 

PROVIDER: S-EPMC8703195 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature