The genetics of neonatal respiratory disease

Semin Fetal Neonatal Med. 2005 Jun;10(3):271-82. doi: 10.1016/j.siny.2005.02.004. Epub 2005 Apr 7.


This chapter reviews some of the genetic predispositions that may govern the presence or severity of neonatal respiratory disorders. Respiratory disease is common in the neonatal period, and genetic factors have been implicated in some rare and common respiratory diseases. Among the most common respiratory diseases are respiratory distress syndrome of the newborn and transient tachypnoea of the newborn, whereas less common ones are cystic fibrosis, congenital alveolar proteinosis and primary ciliary dyskinesias. A common complication of neonatal respiratory distress syndrome is bronchopulmonary dysplasia or neonatal chronic lung disease. This review examines the evidence linking known genetic contributions to these diseases. The value and success of neonatal screening for cystic fibrosis is reviewed, and the recently characterised contribution of polymorphisms and mutations in the surfactant protein genes to neonatal respiratory disease is evaluated. The evidence that known variability in the expression of surfactant protein genes may contribute to the risk of development of neonatal chronic lung disease or bronchopulmonary dysplasia is examined.

Publication types

  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / analysis
  • Genetic Predisposition to Disease
  • Humans
  • Infant, Newborn
  • Mutation
  • Neonatal Screening
  • Polymorphism, Genetic
  • Pulmonary Alveolar Proteinosis / genetics
  • Pulmonary Surfactant-Associated Proteins / deficiency
  • Pulmonary Surfactant-Associated Proteins / genetics
  • Respiratory Tract Diseases / diagnosis
  • Respiratory Tract Diseases / genetics*
  • Severity of Illness Index


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