Ontology highlight
ABSTRACT:
SUBMITTER: Torrado M
PROVIDER: S-EPMC5996431 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
BioMed research international 20180529
Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (<i>FBN1</i>) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic <i>FBN1</i> mutation (the c.2678-15C>A variant) in a MFS patient with aortic dilatation. The computational predictions showed that the heterozygous c.2678-15C>A intronic variant might influence the splicing process by differentially affecting canonical versus cr ...[more]