Fig. 3: Phenotype in primary fibroblasts of affected individuals heterozygous for pathogenic CYFIP2 missense variants and unaffected controls. | Genetics in Medicine

Fig. 3: Phenotype in primary fibroblasts of affected individuals heterozygous for pathogenic CYFIP2 missense variants and unaffected controls.

From: New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

Fig. 3

(a) Representative images of PDGF-stimulated primary fibroblasts with phalloidin staining of F-actin. Fewer dorsal ruffles (indicated with white arrows) were observed in patient cells compared with unaffected control cells. (b) Quantification of dorsal ruffle formation in patient and control fibroblasts. The number of counted dorsal ruffles was normalized to cell number. Three independent experiments are shown, and at least 200 cells were analyzed in each. (c) Representative images of wound healing assays with fibroblasts carrying the p.(Tyr108His) variant and a control line at time points 0 hours and 24 hours. (d,e) Wound healing assay analysis of (d) time to half gap and (e) migration speed of patient and control fibroblasts. Three independent experiments with two technical replicates each were analyzed. Only fibroblasts harboring the p.(Tyr108His) variant showed a significant impairment of migration compared with controls. Mean and standard deviation are displayed, and statistical significance was evaluated using one-way analysis of variance (ANOVA) with p values indicated as follows: *p < 0.05, **p < 0.01, p**** < 0.0001.

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