Genetic testing by exome sequencing based on a gene panel of 148 genes known to be associated with heterotaxy syndrome and PCD was conducted and detected a novel homozygous c.2347_2351del (p.Phe783ThrfsTer3) PVS1 null variant in exon 17 of the CCDC39 gene. The gene discussed is CCDC39; the disease is primary ciliary dyskinesia.