Corneal Vascularization Associated With a Novel PDGFRB Variant.

ABSTRACT:

Purpose

The purpose of this study was to identify the genetic cause of aggressive corneal vascularization in otherwise healthy children in one family. Further, to study molecular consequences associated with the identified variant and implications for possible treatment.

Methods

Exome sequencing was performed in affected individuals. HeLa cells were transduced with the identified c.1643C>A, p.(Ser548Tyr) variant in the platelet-derived growth factor receptor beta gene (PDGFRB) or wild-type PDGFRB. ELISA and immunoblot analysis were used to detect the phosphorylation levels of PDGFRβ and downstream signaling proteins in untreated and ligand-stimulated cells. Sensitivity to various receptor tyrosine kinase inhibitors (TKIs) was determined.

Results

A novel c.1643C>A, p.(

SUBMITTER: Gladkauskas T 

PROVIDER: S-EPMC10631511 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature