Fig. 3: MFS pedigrees with splice-altering variants identified on whole genome sequencing. | npj Genomic Medicine

Fig. 3: MFS pedigrees with splice-altering variants identified on whole genome sequencing.

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

Fig. 3

Pedigree 1 (a) had extensive aortic disease and multiple individuals with a clinical diagnosis of MFS but negative genetic testing. WGS identified a novel FBN1 variant, c.6872-1003 C > T (SpliceAI – 0.39), in two affected brothers, predicted to activate a cryptic splice site within intron 56. Pedigree 2 (b) was similarly affected with aortic disease and clinical MFS diagnoses but negative molecular testing. WGS of the proband revealed a novel FBN1 variant, c.1148-16 T > A (SpliceAI – 0.9), predicted to cause intron retention and extension of exon 11 of the mRNA transcript. Systemic scores (SS), aortic diameters at the sinuses of Valsalva (Ao), and normalized aortic diameter Z-scores are shown for individuals who underwent clinical assessment. MFS – Marfan syndrome; WGS – whole genome sequencing.

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