SMC1A and Cornelia de Lange syndrome: In the SMC1A gene, known as a causative gene of Cornelia de Lange syndrome (Ansari et al., 2014), an LPV (c.2368C>T;p.Arg790Trp) was identified in a male sibling pair (M-055-P, M-055-S) clinically suspected of Cornelia de Lange syndrome.