Corneal Infantile Myofibromatosis Caused by Novel Activating Imatinib-Responsive Variants in PDGFRB.

ABSTRACT:

Purpose

To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.

Design

Case series with genetic and functional in vitro analyses.

Participants

Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated.

Methods

Exome-based panel sequencing for platelet-derived growth factor receptor beta gene (PDGFRB) and notch homolog protein 3 gene (NOTCH3) was performed in the respective index patients. One clinically affected member of each family was tested for the pathogenic variant detected in the respective index by Sanger sequencing. Immunohistochemical staining on excised corneal tissue was conducted. Functional analysis of

SUBMITTER: Howaldt A 

PROVIDER: S-EPMC10875226 | biostudies-literature | 2024 May-Jun

REPOSITORIES: biostudies-literature