Identification of seven novel ZNF469 mutations in keratoconus patients in a Han Chinese population.

ABSTRACT:

Purpose

To test for the potential presence of novel mutations in the zinc finger protein (ZNF469) gene in patients with sporadic keratoconus (KC) from a Han Chinese population.

Methods

Fifty-three patients with primary KC, 30 patients with high myopia (HM), and 100 unrelated population-matched healthy controls without any ocular or systemic disorders, all of Han Chinese ethnicity, were recruited. Blood samples were donated, and genomic DNA was isolated from peripheral blood leukocytes. Sequence variations in ZNF469 were initially identified in patients with KC with next-generation sequencing and subsequently confirmed using Sanger sequencing. Sequence variants identified in patients with KC were subsequently screened in 30 patients with HM and 100 health

SUBMITTER: Yu X 

PROVIDER: S-EPMC5410165 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature