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Article

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

BioMed research international - 1 Jan 2018

Torrado Mario, Maneiro Emilia, Trujillo-Quintero Juan Pablo, Evangelista Arturo, Mikhailov Alexander T, Monserrat Lorenzo

Abstract excerpt

Marfan syndrome (MFS) is an autosomal dominantly inherited connective tissue disorder, mostly caused by mutations in the fibrillin-1 (FBN1) gene. We, by using targeted next-generation sequence analysis, identified a novel intronic FBN1 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 30003093
DOI: 10.1155/2018/3536495
PMCID: PMC5996431

Genes

FBN1

Provenance

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