Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer

A whole-genome linkage study is performed to identify a rare missense mutation in candidate gene, SFTPA2 and other genes that are defective in idiopathic pulmonary fibrosis (IPF), a lethal scarring lung disease that affects older adults. The data obtained are found to be consistent with SFTPA2 germline mutations that interfere with protein trafficking and cause familial IPF and lung cancer.