“…The MKS complex derives its name from Meckel–Gruber syndrome (MKS), an extremely severe ciliopathy, leading to perinatal lethality and characterized by occipital encephalocele, polycystic kidneys, and polydactyly (Hildebrandt et al 2011). MKS can arise from mutations in MKS1, TMEM216, TMEM67, CEP290, RPGRIP1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2, TMEM231, KIF14, TCTN3, and TMEM107 (Thomas et al 2012; Shaheen et al 2013; Filges et al 2014; Valente et al 2014; Roberson et al 2015; Shaheen et al 2015). Of these, all except RPGRIP1L, NPHP3, and KIF14 encode identified components of the MKS complex (Chih et al 2011; Dowdle et al 2011; Garcia-Gonzalo et al 2011; Sang et al 2011; Roberson et al 2015; Lambacher et al 2016).…”