LAUSR

Pathogenic variants in the ATP binding cassette member A3 (ABCA3) gene were first described in newborn infants with lethal respiratory failure in 2004. 1 Subsequent reports have expanded the clinical spectrum associated with biallelic ABCA3 variants to include infants with the phenotype of childhood interstitial lung disease (chILD), who presented after the newborn period and had prolonged survival, even into adult-hood. 2–4 A genotype–phenotype correlation has emerged with biallelic null (frameshift or nonsense) ABCA3 variants predicting neonatal onset of respiratory failure and death prior to 1 year of age without lung transplantation, whereas the age of presentation and disease course associated with other ABCA3 variants (missense, splicing and in- frame insertion/dele-tions) are less reliably predicted. 3 5