Novel Von Hippel-Lindau Germline Variants in Iranian Patients with Retinal Capillary Hemangioblastoma.

ABSTRACT:

Introduction

The aim of this study was to determine the potential genetic cause of retinal capillary hemangioblastoma (RCH) with symptoms of Von Hippel-Lindau (VHL) disease.

Case presentations

Three Iranian families (5 RCH patients) with novel variants are included in this study. The VHL variant analysis was performed by the Sanger sequencing technique. Molecular dynamics (MDs) simulations were conducted to analyze conformational changes resulting from variants in VHL protein structure and were compared with that of the native structure. Novel variant sites, including c.511A>C, c.511A>T, and c.514C>T in exon 3 of the VHL gene were identified. According to the American College of Medical Genetics (ACMG) classifications, c.514C>T (p.P172S) and c.511A>C (p.K171Q)

SUBMITTER: Azimi F 

PROVIDER: S-EPMC11842073 | biostudies-literature | 2025 Jan-Dec

REPOSITORIES: biostudies-literature