Mutations of surfactant-associated genes, including SFTPA1 (location: 10q22.3), SFTPA2 (10q22.3), SFTPC (8p21.3), SFTPB (2p11.2), ABCA3 (16p13.3) and NKX2.1 (14q13.3)), are the second most frequent forms of pulmonary fibrosis, approximately occurring in 1–5% of familial cases [92]. The gene discussed is SFTPA1; the disease is pulmonary fibrosis.