Single ABCA3 Mutations Increase Risk for Neonatal Respiratory Distress Syndrome
JA Wambach, DJ Wegner, K DePass, H Heins… - …, 2012 - publications.aap.org
BACKGROUND AND OBJECTIVE: Neonatal respiratory distress syndrome (RDS) due to
pulmonary surfactant deficiency is heritable, but common variants do not fully explain
disease heritability. METHODS: Using next-generation, pooled sequencing of race-stratified
DNA samples from infants≥ 34 weeks' gestation with and without RDS (n= 513) and from a
Missouri population-based cohort (n= 1066), we scanned all exons of 5 surfactant-
associated genes and used in silico algorithms to identify functional mutations. We validated …
pulmonary surfactant deficiency is heritable, but common variants do not fully explain
disease heritability. METHODS: Using next-generation, pooled sequencing of race-stratified
DNA samples from infants≥ 34 weeks' gestation with and without RDS (n= 513) and from a
Missouri population-based cohort (n= 1066), we scanned all exons of 5 surfactant-
associated genes and used in silico algorithms to identify functional mutations. We validated …