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

Fiammetta Piersigilli, Donatella Peca, Francesca Campi, Mirta Corsello, Francesca Landolfo, Renata Boldrini, Olivier Danhaive, Andrea Dotta

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)970-974
Number of pages5
JournalPediatrics International
Volume57
Issue number5
DOIs
Publication statusPublished - Oct 1 2015

Keywords

  • ABCA3
  • neonate
  • respiratory distress syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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