Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome

摘要

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder typically involving the ocular, skeletal and cardiovascular systems, and aortic aneurysms/dissection mainly contributes to its mortality. Here, we performed genetic testing of the FBN1 gene in 39 Chinese probands with Marfan/Marfan-like syndrome and their related family members by Sanger sequencing. In total, 29 pathogenic/likely pathogenic FBN1 mutations, including 17 novel ones, were identified. In addition, most MFS patients with aortic disease (62%) had a truncating or splicing mutation. These results expand the FBN1 mutation spectrum and enrich our knowledge of genotype phenotype correlations. Genetic testing for MFS and its related aortic diseases is increasingly important for early intervention and treatment (C) 2016 Elsevier B.V. All rights reserved.