Pathogenicity Testing of a Silent FBN1 Variant Detected in Three Unrelated Suspected Marfan Syndrome Patients

Abstract

Mutations in the FBN1 gene lead to MFS and related connective tissue disorders. In our work we investigated potential pathogenicity of a known silent mutation (c.3294C>T (p.(Asp1098=)) in exon 26 of FBN1 gene detected in three unrelated suspected MFS patients. Our aim was to determine mRNA expression and splicing pattern by FBN1 transcript analysis.