Prevalence of SHANK rare coding-sequence and copy-number variants in patients with ASD and controls.

aAll truncating SHANK variants were de novo (for three, the DNA of one parent was not available). In the damaging missense category, two SHANK3 (P141A & Q321R) were de novo.bFor SHANK1, there are two studies (Sato et al. (2012) [19] and this study), but Sato et al. (2012) [19] did not screen for all SHANK1 exons in the controls. Therefore these controls were not included here.cThe two SHANK3 deletions reported by Glessner et al. (2009) [34] in control subjects have not been validated and should be interpreted with caution. The frequencies of SHANK mutations have been calculated including only unrelated cases and controls. FEM, Fixed Effects Model; REM, Random Effects Model. After Bonferroni correction for 12 tests (significant threshold corrected α-value = 0.0042), only the SHANK3 copy-number variant association remains significant. The power achieved to observe the statistical difference between patients and controls for SHANK1 and SHANK2 damaging missense variants was 69% and 59%.Prevalence of SHANK rare coding-sequence and copy-number variants in patients with ASD and controls.