New ATP‐binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3. Issue 5 (19th August 2015)

• Record Type: Journal Article
• Authors: Piersigilli, Fiammetta; Peca, Donatella; Campi, Francesca; Corsello, Mirta; Landolfo, Francesca; Boldrini, Renata; Danhaive, Olivier; Dotta, Andrea
• Is Part Of: Pediatrics international. Volume 57:Issue 5(2015)
• Page Start: 970
• Page End: 974
• Publication Date: 2015-08-19
• Subjects: ABCA3 -- neonate -- respiratory distress syndrome; Pediatrics -- Periodicals; 618.92
• DOI: 10.1111/ped.12673
• Languages: English
• ISSNs: 1328-8067

Abstract

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.