Genetic disorders of surfactant proteins

Neonatology. 2007;91(4):311-7. doi: 10.1159/000101347. Epub 2007 Jun 7.

Abstract

Inherited disorders of pulmonary surfactant-associated proteins are rare but provide important insights into unique mechanisms of surfactant dysfunction. Recessive loss-of-function mutations in the surfactant protein-B and the ATP-binding cassette family member A3 (ABCA3) genes present as lethal surfactant deficiency in the newborn, whereas other recessive mutations in ABCA3 and dominant mutations in the surfactant protein-C gene result in interstitial lung disease in older infants and children. The molecular basis and the genetic and tissue-based approaches to the evaluation of children suspected of having one of these disorders are discussed.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Humans
  • Infant, Newborn
  • Lung / pathology
  • Lung Diseases / genetics*
  • Lung Transplantation*
  • Metabolism, Inborn Errors / genetics
  • Mutation*
  • Pulmonary Surfactant-Associated Protein C / genetics
  • Pulmonary Surfactant-Associated Proteins / genetics*
  • Respiratory Distress Syndrome, Newborn / genetics*
  • Respiratory Distress Syndrome, Newborn / pathology
  • Respiratory Distress Syndrome, Newborn / surgery

Substances

  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters
  • Pulmonary Surfactant-Associated Protein C
  • Pulmonary Surfactant-Associated Proteins