2018 AANS Annual Scientific Meeting-718. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation

718. Exome Sequencing Defines the Molecular Pathogenesis of Vein of Galen Malformation

Video Transcription

Video Summary

In this video, Dr. Duran discusses the molecular characterization of vein of Galen malformations (VGM). He explains that VGM is a rare disease that was historically misunderstood and misnamed. The study aimed to sequence a significant number of VGM cases, which was challenging due to the rarity of the disease. The research team used social media and collaborations with other institutions to collect data from 50 patients. The findings revealed that VGM is not a sporadic disease, but rather a phenotypic manifestation of a broader syndrome. Mutations in the gene FB4, which is involved in vascular development, were found to be significant. The study also identified an interaction between FB4 and the causal gene for CMAVM syndrome, RASA1. Dr. Duran concludes by emphasizing the importance of recognizing the broader syndrome and warns about the presence of cutaneous manifestations as red flags for VGM.

Asset Caption

Daniel Duran, MD

Keywords

molecular characterization

vein of Galen malformations

rare disease

FB4 gene mutations

CMAVM syndrome