FIGURE 4.

Summary of results in families where parental mosaicism was detected (a). For the EHMT1 family (in green), the heterozygote child (index patient) had a total of 49.9% of mutation‐positive droplets (dark green; FAM positive) and 50.1% wild‐type‐positive droplets (light green; VIC positive). The blood samples from the mother and father were negative, with 0% mutated droplets identified. Sperm sample from the father identified 1.1% mutated droplets (dark green). For the ITPR1 family (in red), the index patient had a total of 50.0% of mutation‐positive droplets (dark red; FAM positive) and 50.0% wild‐type‐positive droplets (light red; VIC positive). Blood and sperm from the father had 9.3% and 20.2%, respectively, positive droplets. Since the mother had passed away, DNA was not available in the ITPR1 family. All samples were run at the least in triplicates and each assay with positive findings was replicated with similar results. Pedigrees of EHMT1 family (b) and ITPR1 family (c)