Figure 2

Comparison between groups of FMR1 intron 1 CpG10–12 methylation output ratio in 490 venous blood DNA and 98 newborn and adult dried blood spots. (a) Venous blood DNA from 17 control, 38 premutation (PM), and 66 full-mutation (FM) males indentified through the developmental delay/autism spectrum disorder of unknown-cause fragile X syndrome (FXS) testing referrals (formal IQ testing was not performed); as well as four “high-functioning” FM males with verbal IQ > 70 determined to be unmethylated using methylation sensitive Southern blot and identified through cascade testing. (b) De-identified newborn and adult dried blood spots from 20 control, 6 PM, and 20 FM males located through cross-matching laboratory identification numbers of venous blood samples referred for routine fragile X testing; as well as two dried blood spots from “high-functioning” FM males with verbal IQ > 70 determined to be unmethylated using methylation sensitive Southern blot identified through cascade testing. (c) Venous blood DNA from 102 control, 137 PM, and 126 FM females indentified through the developmental delay/autism spectrum disorder of unknown cause and cascade FXS testing (formal IQ testing was not performed). (d) De-identified newborn and adult dried blood spots from 20 control, 6 PM, and 24 FM females located through cross-matching laboratory identification numbers of venous blood samples referred for routine fragile X testing; as well as one Turner syndrome dried blood spot.