Extended Data Fig. 6: Sperm mosaicism stratifies risk for pathogenic ASD mutations.
From: Autism risk in offspring can be assessed through quantification of male sperm mosaicism
a-c AF (determined by ddPCR) of the mutant allele in paternal sperm (sperm) and maternal blood (mother) for the relevant dSNV in the 14 families. Part of this panel is also presented in Fig. 3. Ctrl –an unrelated sperm or blood sample, as indicated, acting as control. Graphs show individual data points (experimental triplicates) and mean ± SEM. d, Sanger sequencing results of paternal sperm for the locus harboring the dSNV for each family. Confirming the ddPCR results, F09, F10, and F13 showed mosaicism at their respective positions. e, Sanger sequencing results showing the C > T conversion locus in GRIN2A in F09 for all family members. The mutation was absent in the saliva of both parents, but present as a heterozygous allele in all 3 children.