Fig. 2

Genetic characterisation and mutational spectra of pathogenic TSC mutations and male to female ratio. A Number and proportion of cases with TSC1 or TSC2 mutation or no mutation identified (NMI); B Number and prevalence of mutation types of 92 patients with an identified genetic mutation; C Proportions of each mutation type in TSC1 vs TSC2 compared with Fisher’s exact test (p < 0.05 significance); D Forest plot indicating the male to female ratio calculated from each study involving a TSC patient cohort (red circle), and the overall mean male to female ratio is represented by the green circle, confidence whiskers represent a 95% confidence interval (CI) for each study and the mean, male to female ratio (M:F) and upper and lower confidence intervals are listed in right hand columns where a M:F of 1 (x = 1) signifies equal number of males and females in each cohort as graphically indicated by the dotted line, x<1 represents more females than males and x>1 represents more males than females, Cochran’s Q test for heterogeneity: Q=8.14, df=11 (p=0.61); I²=0%; CI, confidence interval; TSC, tuberous sclerosis complex; ** p < 0.01. ; n.s., non-significant