New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3

Pediatr Int. 2015 Oct;57(5):970-4. doi: 10.1111/ped.12673. Epub 2015 Aug 19.


Respiratory distress syndrome (RDS) may occur in term and near-term infants because of mutations in surfactant-related genes. ATP-binding cassette A3 (ABCA3), a phospholipid carrier specifically expressed in the alveolar epithelium, is the most frequently involved protein. We report the case of a couple of late-preterm fraternal twin infants of opposite sex carrying the same compound heterozygous ABCA3 mutations, one of which has never been previously reported, with different disease severity, suggesting variable penetrance or sex-related differences. ABCA3 deficiency should be considered in term or near-term babies who develop unexplained RDS.

Keywords: ABCA3; neonate; respiratory distress syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • ATP-Binding Cassette Transporters / metabolism
  • Bronchography
  • DNA / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Diseases in Twins*
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Lung Diseases, Interstitial / diagnosis
  • Lung Diseases, Interstitial / genetics*
  • Lung Diseases, Interstitial / metabolism
  • Microscopy, Electron, Transmission
  • Mutation*
  • Pulmonary Alveolar Proteinosis / diagnosis
  • Pulmonary Alveolar Proteinosis / genetics*
  • Pulmonary Alveolar Proteinosis / metabolism
  • Pulmonary Alveoli / ultrastructure
  • Radiography, Thoracic
  • Term Birth*


  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters
  • DNA

Supplementary concepts

  • Surfactant Metabolism Dysfunction, Pulmonary, 3