Fig. 3: Molecular analyses of the probands and in their parents with a mosaic variant.
From: Parental mosaicism in Marfan and Ehlers–Danlos syndromes and related disorders
A Electrophoregrams of direct sequencing showing the causal variant present at heterozygous state in the proband and in mosaic in the parent’s blood. Note the absence of visualization of the variant in family MF050 (as indicated by arrow). B Melting curves of High Resolution Melting Analysis showing the dilution series for variants in FBN1 or COL5A1 for each family, with the superposition of the profile of mosaic patients. WT wild type. C Variant allele fraction (VAF) in blood obtained by next-generation sequencing showing the level of mosaicism (depth at the position is specified below patient number).
