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Vol. 91, No. 4, 2007
Issue release date: June 2007
Neonatology 2007;91:311–317

Genetic Disorders of Surfactant Proteins

Hamvas A. · Cole F.S. · Nogee L.M.
aEdward Mallinckrodt Department of Pediatrics, Washington University and St. Louis Children’s Hospital, St. Louis, Mo., and bDepartment of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Md., USA

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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.

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