… with no identifiable genetic mutations despite the presence of clinical, familial and histological
… Genetic counselling and testing of family members is also required once the genetic …

… Mutations in the surfactant protein C gene (SFTPC) result in interstitial lung disease (ILD). Our
… Patient 2 was the only one who had a family history of a brother with ILD at 1 year of life. In …

… by mutations in genes necessary for surfactant production, … Surfactant protein C (SP-C)
is a hydrophobic protein encoded by … Family history revealed no known cases of pulmonary …

… surfactant protein C gene (SFTPC) mutation associated with familial interstitial lung disease
… Methods: Two cases of adult SFTPC gene mutation associated with familial interstitial lung …

… having ChILD, or when severe disease is present, or when a family history of ILD exists, the
… in genes encoding surfactant proteins: surfactant protein B (SFTPB), surfactant protein C (…

… history of lung disease in his family, genetic screening was … heterozygous surfactant protein
C gene (SFTPC) mutation (c.… mutations have been linked with interstitial lung diseases (ILDs)…

… pulmonary surfactant protein C gene (SFTPC) 218 site mutation in children with pulmonary
interstitial disease… of 7 cases of SFTPC gene 218 site mutations in infants with interstitial lung …

… Mutations in the surfactant protein C gene (SFTPC) are responsible for hereditary interstitial
lung disease … of diffuse lung disease associated with surfactant protein C mutations. Eur J …

… Simultaneously, our study also revealed that genetic testing for damaging mutations in
surfactant protein-related genes, telomere-related gene, and other ILD susceptibility genes is …

… SFTPC mutations have no family history of lung disease, and 40% to 80% of identified
mutations are novel mutations, suggesting that this gene may be a mutational hotspot. [18–20] …