A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy

Melissa Kaori Silva Litao, Don Hayes, Saurabh Chiwane, Lawrence M. Nogee, Geoffrey Kurland, Lokesh Guglani

Research output: Contribution to journalArticlepeer-review

Abstract

Mutations of the Surfactant Protein C (SPC) gene (SFTPC) have been associated with childhood interstitial lung disease (chILD) with variable age of onset, severity of lung disease, and outcomes. We report a novel mutation in SFTPC [c.435G->A, p.(Gln145)] that was associated with onset of symptoms in early infancy, progressive respiratory failure with need for prolonged mechanical ventilatory support, and eventual lung transplant at 1 year of age. While the mutation was not predicted to alter the amino acid sequence of the SP-C precursor protein, analysis of SP-C transcripts demonstrated skipping of exon 4. Because of limited data about the outcomes of infants with SFTPC mutations, we conducted a systematic review of all the SFTPC mutations reported in the literature in order to define their presenting features, clinical and radiologic features, and outcomes. Further advances in our understanding of chILD and creation of an international registry will help to track these patients and their outcomes. Pediatr Pulmonol. 2017;52:57–68.

Original languageEnglish (US)
Pages (from-to)57-68
Number of pages12
JournalPediatric pulmonology
Volume52
Issue number1
DOIs
StatePublished - Jan 1 2017

Keywords

  • chest
  • infant
  • interstitial
  • lung
  • mutation
  • respiratory failure
  • surfactant
  • transplant

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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