Characterization of a distinct lethal arteriopathy syndrome in twenty-two infantsassociated with an identical novel mutation in FBLN4 gene confirms fibulin-4as a critical determinant of human vascular elastogenesis

摘要

BackgroundVascular elasticity is crucial for maintaining hemodynamics. Molecular mechanisms involved in human elastogenesis are incompletely understood. We describe a syndrome of lethal arteriopathy associated with a novel, identical mutation in the fibulin 4 gene (FBLN4) in a unique cohort of infants from South India.