LLGL1 and Potocki-Lupski syndrome: Interestingly, Potocki-Lupski syndrome, a reciprocal microduplication syndrome in which the SMS region is duplicated (including Lgl1) is also associated with structural heart defects (Sanchez-Valle et al., 2011; Yusupov et al., 2011; Bi et al., 2002), suggesting that levels of Lgl1 are important in supporting heart development.