Fatal respiratory failure in a full-term newborn with two ABCA3 gene mutations: a case report

J Perinatol. 2011 Jan;31(1):70-2. doi: 10.1038/jp.2010.122.


Genetic mutations associated with pulmonary surfactant protein deficiency are associated with diverse clinical phenotypes. Mutations of the surfactant protein B and C genes were the first to be described. In 2004, fatal surfactant deficiency in newborns due to mutations of the gene encoding the adenosine triphosphate-binding cassette transporter A3 (ABCA3) was first reported. Few cases of lethal adenosine triphosphate-binding cassette transporter A3 mutations have been described to date. In our report, we describe a full-term newborn that died because of respiratory failure secondary to an uncommon ABCA3 genetic configuration.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Continuous Positive Airway Pressure
  • Fatal Outcome
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Radiography, Thoracic
  • Recurrence
  • Respiratory Distress Syndrome, Newborn / genetics
  • Respiratory Insufficiency / diagnostic imaging
  • Respiratory Insufficiency / genetics*
  • Respiratory Insufficiency / therapy
  • Retreatment
  • Tomography, X-Ray Computed
  • Treatment Failure


  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters