Genetic disorders of surfactant proteins

Aaron Hamvas, F. Sessions Cole, Lawrence M. Nogee

Research output: Contribution to journalArticlepeer-review

77 Scopus citations

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.

Original languageEnglish
Pages (from-to)311-317
Number of pages7
JournalNeonatology
Volume91
Issue number4
DOIs
StatePublished - Jun 2007

Keywords

  • Genetics
  • Lung transplantation
  • Newborn
  • Pulmonary surfactant
  • Respiratory distress syndrome

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