Fig. 2

Germline MECP2 mosaicism in adult males without RTT family history. Mosaic variants are clearly demonstrated on the flow cytometry scatter plots of the mDDPCR results under the red arrow near “MU” at the bottom right corner. The 95% confidence intervals (CIs) for the mutant allele fraction (MAF = MU/[MU + WT]) were calculated under a binomial distribution. MU signals from mutant alleles, NA signals from droplets that did not contain target sequences and thus could not be amplified, WT signals from wild-type alleles