Interestingly, mutations in Luzp1 resulted in cardiovascular defects and cranial NTD in mice (Hsu et al., 2008), phenotypes within the spectrum of those seen in TBS individuals and mouse models of dysfunctional cilia (Botzenhart et al., 2007; Botzenhart et al., 2005; Klena et al., 2016; Kohlhase et al., 1998; Surka et al., 2001; Toomer et al., 2019). The gene discussed is LUZP1; the disease is Townes-Brocks syndrome.