Fig. 1: Pedigree and RT-PCR assay for sporadic dissection case with FBN1 c.2294-3 C > A variant ascertained through clinical testing. | npj Genomic Medicine

Fig. 1: Pedigree and RT-PCR assay for sporadic dissection case with FBN1 c.2294-3 C > A variant ascertained through clinical testing.

From: Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing

Fig. 1

a Family members carrying the FBN1 variant are marked with a ‘+’, including the proband’s brother with a systemic score (SS) of 8. Individuals with normal aortic imaging are marked with a ‘*’. b Gel electrophoresis image of RT-PCR from skin fibroblasts of proband’s brother. Band 1 (blue) represents a small amount of two abnormal splice products generated by the rare use of two cryptic acceptor sites in the exon. Bands 2-5 (blue) are two heteroduplex pairs formed between normal and abnormal products. Ao: Aortic diameter at the sinuses of Valsalva; Z-score: normalized aortic diameter. CHX – sample treated with cycloheximide, an inhibitor of nonsense-mediated decay (NMD).

Back to article page