Large ABCA3 and SFTPC deletions resulting in lung disease

Lindsay B. Henderson, Kristin Melton, Susan Wert, Jonathan Couriel, Andrew Bush, Michael Ashworth, Lawrence M. Nogee

Research output: Contribution to journalArticlepeer-review

16 Scopus citations


Rationale: Mutations in genes encoding proteins important in the function and metabolism of pulmonary surfactant are recognized causes of lung disease. Clinical genetic testing is available for these disorders, but children with phenotypes consistent with surfactant dysfunction and no identifiable mutations in the known causative genes have been reported. Objectives: To identify the mechanism(s) for lung disease in two children with the phenotype of surfactant dysfunction who had negative testing in clinical laboratories for gene mutations causing surfactant dysfunction. Methods: Amplicons spanning multiple exons of candidate genes were generated by polymerase chain reaction and sequenced. Measurements and Main Results: A 4,335-base deletion that included all of exon 12 of the gene encoding member A3 of the adenosine triphosphate-binding cassette transporter was identified in a full-term infant with respiratory failure. A 333-base deletion involving part of exon 4 and the adjacent intron of the gene encoding surfactant protein C was identified in a child with interstitial lung disease. Conclusions: Large deletions are a cause of surfactant dysfunction disorders and may need to be sought for specifically in children whose phenotypes suggest these syndromes but in whom clinical genetic testing is unrevealing.

Original languageEnglish (US)
Pages (from-to)602-607
Number of pages6
JournalAnnals of the American Thoracic Society
Issue number6
StatePublished - Dec 2013


  • Genetic basis of disease
  • Interstitial lung disease
  • Pulmonary surfactant
  • Respiratory distress syndrome

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


Dive into the research topics of 'Large ABCA3 and SFTPC deletions resulting in lung disease'. Together they form a unique fingerprint.

Cite this