Pathogenicity Testing of a Silent FBN1 Variant Detected in Three Unrelated Suspected Marfan Syndrome Patients
Absztrakt
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.
Leírás
Kulcsszavak
FBN1, Marfan syndrome, slient mutation, mRNA splicing, expression, GS Junior System, Sanger sequencing