Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome. (17th April 2018)

• Record Type: Journal Article
• Authors: Wang, Yueli; Li, Xiaoyan; Li, Rongjuan; Yang, Ya; Du, Jie
• Other Names: Jeong Byung-Hoon Academic Editor.
• Is Part Of: International journal of genomics. Volume 2018(2018)
• Publication Date: 2018-04-17
• Subjects: Genomes -- Periodicals; Genomics -- Periodicals; Cytogenetics -- Periodicals; Genomics; Genome; Molecular Biology; Cytogenetics; Genomes; Genomics; Periodicals; 572.86
• DOI: 10.1155/2018/1246516
• Languages: English
• ISSNs: 2314-436X

Abstract

Abstract : Marfan syndrome (MFS) is an autosomal dominant genetic disorder of the connective tissue, typically characteristic of cardiovascular manifestations, valve prolapse, left ventricle enlargement, and cardiac failure. Fibrillin-1 (FBN1 ) is the causative gene in the pathogenesis of MFS. Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. Using next-generation sequencing (NGS) technologies, 3 novel frameshift pathogenic mutations which are cosegregated with affected subjects in 3 pedigrees were identified. These novel mutations provide important diagnostic and therapeutic insights for precision medicine in MFS, especially regarding the lethal cardiovascular events.