Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome

摘要

BackgroundMarfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genetic variants in determining MFS clinical phenotypes.