A major deletion in the surfactant protein-B gene causing lethal respiratory distress

Daniel J. Wegner, Torbjörn Hertzberg, Hillary B. Heins, Göran Elmberger, Michael J. MacCoss, Christopher S. Carlson, Lawrence M. Nogee, F. Sessions Cole, Aaron Hamvas*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

24 Scopus citations


Background: Loss of function mutations in the surfactant protein-B gene (SFTPB) cause lethal neonatal respiratory distress due to reduced or absent expression of mature surfactant protein B (SP-B, encoded in exons 6 and 7). No large deletions in SFTPB have been previously identified. Aim: Genomic, proteomic and immunohistochemical characterization of a 3 kb deletion in SFTPB. Methods: A full-term newborn presented with refractory respiratory failure. We amplified and sequenced SFTPB from the infant and both parents, determined SP-B protein expression in tracheal aspirate samples using Western-blot analysis, and performed immunohistochemical staining and electron microscopy of lung biopsy tissue. Results: The infant was homozygous for a 2958 bp deletion in SFTPB that included exons 7 and 8. Both asymptomatic parents were heterozygous for the deletion. A truncated mature SP-B peptide was detected on Western blotting of tracheal aspirate. Amino acid sequence specific to that encoded in exon 5 was present, but that encoded by exon 7 was absent. ProSP-B expression was robust within alveolar type II cells and lamellar body structure was disrupted. Conclusions: This deletion in SFTPB resulted in SP-B deficiency due to absence of elements in mature SP-B that are critical for appropriate peptide folding, trafficking and processing.

Original languageEnglish (US)
Pages (from-to)516-520
Number of pages5
JournalActa Paediatrica, International Journal of Paediatrics
Issue number4
StatePublished - Apr 2007


  • Genetic analysis
  • Infant
  • Mass spectrometry
  • Pulmonary surfactant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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