Abstract

We describe a late preterm neonate presenting with respiratory distress syndrome (RDS), homozygous for the E292V missense mutation in the ATP-binding cassette subfamily A, member 3 gene. The neonate improved with supportive care. The E292V variant is the most common mutation in ABCA3, which is essential in surfactant synthesis. This variant has variable penetrance and is associated with increased prevalence of RDS and childhood interstitial lung disease and adult-onset interstitial lung disease. Homozygous E292V mutations have been associated with fatal neonatal lung disease and lung fibrosis in adulthood. This case highlights the association of homozygous E292V with non-fatal RDS that is more severe than predicted based on gestational age. Early genetic diagnosis permits the implementation of preventative health strategies and screening for lung disease throughout life and furthers knowledge of genetic risks for RDS and interstitial lung disease.