Gene coding for surfactant protein SP-C.

Pathology

 germline mutations in gene SFTPC coding for surfactant proteigenen C (SP-C) in

• SP-C deficiency
  • neonatal alveolar proteinosis (MIM.265120)
  • familiial pulmonary alveolar proteinosis (MIM.265120)

• familial interstitial lung disease
• familial idiopathic pulmonary fibrosis (MIM.178500)
• familial desquamative interstitial pneumonitis (DSIP) (MIM.263000)

 SFTPC gene variation in perinatal respiratory disease

References

 Brasch F, Griese M, Tredano M, Johnen G, Ochs M, Rieger C, Mulugeta S, Muller KM, Bahuau M, Beers MF. Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene. Eur Respir J. 2004 Jul;24(1):30-9. PMID: #15293602#

 Nogee LM, Dunbar AE 3rd, Wert SE, Askin F, Hamvas A, Whitsett JA. A mutation in the surfactant protein C gene associated with familial interstitial lung disease. N Engl J Med. 2001 Feb 22;344(8):573-9. PMID: #11207353#