Deletions in SPAG1, ARMC4, DYX1C1, LRRC50, and ZYMD10 have been observed in isolated PCD cohorts (Loges et al. 2009; Blanchon et al. 2012; Hjeij et al. 2013; Knowles et al. 2013b; Tarkar et al. 2013; Zariwala et al. 2013), suggesting CNV analysis should be used in the molecular evaluation of patients with PCD. The gene discussed is SPAG1; the disease is primary ciliary dyskinesia.