A study comprising 68 preterm infants with a gestational age <32 weeks of gestation with unusually severe RDS identified 24 out of 68 as heterozygous for previously described rare or new ABCA3, SFTPB, and SFTPC variants, all VUS; a total of 21 ABCA3 variants were found in 18 of the patients; 11 deaths were noted between 2 and 6 months of age, and one infant presented histological aspects suggestive of ABCA3 deficiency [72]. Here, ABCA3 is linked to newborn respiratory distress syndrome.