Diagnosis of PCD was confirmed according to guidelines of the American Thoracic Society (9), and exome analysis of the proband identified novel heterozygous mutations, NM_017950.4: c.2236-2delA and c.2042_2046delTCACA, NP_060420.2: p.(Ile681fs), in the CCDC40 gene. The gene discussed is CCDC40; the disease is primary ciliary dyskinesia.