The diagnosed mutation c.2014C > T (p.Gln672*; allele frequency 7,62 × 10–5) in SPAG1 gene is a nonsense mutation creating a premature termination codon that results in an absent or disrupted protein product [19] and is widely spread (accounting for approx. 14% PCD patients) in the Slavic region including Poland, Czech Republic, and Slovakia [20]. This evidence concerns the gene SPAG1 and primary ciliary dyskinesia.