Premium
New ATP‐binding cassette A3 mutation causing surfactant metabolism dysfunction pulmonary type 3
Author(s) -
Piersigilli Fiammetta,
Peca Donatella,
Campi Francesca,
Corsello Mirta,
Landolfo Francesca,
Boldrini Renata,
Danhaive Olivier,
Dotta Andrea
Publication year - 2015
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12673
Subject(s) - penetrance , medicine , respiratory distress , mutation , pulmonary surfactant , gene , disease , genetics , phenotype , biochemistry , biology , surgery
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.