A Mutation in <i>ZNF143</i> as a Novel Candidate Gene for Endothelial Corneal Dystrophy.

ABSTRACT: Corneal dystrophies (CDs) are a diverse group of inherited disorders with a heterogeneous genetic background. Here, we report the identification of a novel ZNF143 heterozygous missense mutation in three individuals of the same family with clinical and pathological features that are consistent with endothelial CD. Ophthalmologic examination revealed diffuse corneal clouding and edema with decreased endothelial cell density. Pathological findings showed increased corneal thickness due to edema of basal epithelial cells and stroma, and abnormal metaplastic endothelium with stratified epithelium-like changes. Patients' metaplastic corneal endothelial cells expressed predominantly cytokerain 7, cytokeratin 19, and E-cadherin. Although Sanger sequencing did not detect any mutation associated wit

SUBMITTER: Kim Y 

PROVIDER: S-EPMC6723187 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature