Comparison of mean RAI1 levels based on presence/absence of phenotypic features.

Abbreviations: n = not present; y = present; blank = insufficient data for determination; BMI, Body Mass Index; FTT, failure to thrive; NV, non-verbal; OSA, obstructive sleep apnea; overwt, overweight; T&A, tonsillectomy and/or adenoidectomy. Bold underlined: specific for de novo RAI1 cases.aMean mRNA levels as calculated in Figure 3.bBMI and body description based on BMI for age determined using http://www.halls.md/body-surface-area/bsa.htm.cSelf-injurious behavior is present in all but 1 subject (M2867); hypotonia and sleep disturbance are present in all cases, excluding these features from statistical analysis.dPatient M2543 is an ‘unclassified’ case, analyzed here with the ‘de novo’ group as described in the text.eSignificance of RAI1 mRNA level for presence (y) or absence (n) of each clinical feature determined by nonparametric Mann-Whitney Z-value.fp values as calculated by nonparametric Mann-Whitney test; significant p0.05).