AB150. Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome

Abstract

Background and objective Marfan syndrome (MFS) is an autosomal dominant genetic disorder that involves in multisystem connective tissues. The various phenotypic manifestations of MFS are skeleton, ocular and cardiovascular system. MFS is mainly caused by mutations in the fibrillin-1 gene (FBN1 gene) on chromosome 15 which contains 66 exons consist of 11,695 bp mRNA and coding 2,872 amino acids. To date, there are more than 1,000 mutations in FBN1 have been registered in Human Gene Mutation Database (HGMD). Mutation scanning of the FBN1 gene with DNA direct sequencing is time-consuming and expensive because of its large size. The aim of this study was to establish a national database of mutations in the fibrillin-1 (FBN1) gene that cause MFS in the Taiwanese population. And we present an alternative method for high-throughput FBN1 gene variant scanning by melting curve analysis with the Roche LightCycler 480 (LC480) system.