Fig. 3
From: Frequency of de novo variants and parental mosaicism in vascular Ehlers–Danlos syndrome
Detection of one COL3A1 mosaicism in a mother of vascular Ehlers–Danlos syndrome (vEDS) proband. (a) Pedigree of the family. Circles indicate females, squares indicate males. The proband (II-1) is indicated with a black arrow. Current age is indicated above each individual (y = years). (b) Reads of deep targeted next-generation sequencing (NGS) with the COL3A1 mosaic. (c) Sanger sequencing showing the causal pathogenic variant. Electrophoregrams of COL3A1 intron 17 obtained from the proband (II-1) and the mother (I-2) blood leukocytes genomic DNA (gDNA). (d) Allelic ratio of the mosaic in blood and saliva.
