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

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.

DOI: 10.1111/ped.12673

Cite this paper

@article{Piersigilli2015NewAC, title={New ATP-binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3.}, author={Fiammetta Piersigilli and Donatella Peca and Francesca Campi and Mirta Corsello and Francesca Landolfo and Renata Boldrini and Olivier Danhaive and Andrea Dotta}, journal={Pediatrics international : official journal of the Japan Pediatric Society}, year={2015}, volume={57 5}, pages={970-4} }