A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

Marfan syndrome is a pleiotropic connective tissue disease inherited as anautosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located onchromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presentingwith severe ocular and systemic manifestations, such as cardiac congenital anomalies.The patient underwent a multidisciplinary approach and his clinical diagnosis was associatedwith a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration shouldinstigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastatingconsequences such as cardiac and ocular phenotype. Molecular modeling of the mutationhighlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formationprocess. This report aims to highlight the importance of an early clinical and molecular diagnosisand once more, the importance of the multidisciplinary approach of this genetic entity.