SHANK1 and autism: So far, only copy number variant (CNV) deletions encompassing the SHANK1 gene segregated in male carriers with high-functioning autism and showed a clearly reduced penetrance in female individuals (Sato et al., 2012) and some SHANK variants have been found in male autistic patients that were inherited from healthy mothers (for a recent review see (Eltokhi et al., 2018)).