{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T14:44:30Z","timestamp":1791297870224,"version":"4.1.0"},"reference-count":47,"publisher":"American Academy of Pediatrics (AAP)","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2012,12,1]]},"abstract":"<jats:sec>\n                  <jats:title>BACKGROUND AND OBJECTIVE:<\/jats:title>\n                  <jats:p>Neonatal respiratory distress syndrome (RDS) due to pulmonary surfactant deficiency is heritable, but common variants do not fully explain disease heritability.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>METHODS:<\/jats:title>\n                  <jats:p>Using next-generation, pooled sequencing of race-stratified DNA samples from infants \u226534 weeks\u2019 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 each mutation with an independent genotyping platform and compared race-stratified, collapsed frequencies of rare mutations by gene to investigate disease associations and estimate attributable risk.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>RESULTS:<\/jats:title>\n                  <jats:p>Single ABCA3 mutations were overrepresented among European-descent RDS infants (14.3% of RDS vs 3.7% of non-RDS; P = .002) but were not statistically overrepresented among African-descent RDS infants (4.5% of RDS vs 1.5% of non-RDS; P = .23). In the Missouri population-based cohort, 3.6% of European-descent and 1.5% of African-descent infants carried a single ABCA3 mutation. We found no mutations among the RDS infants and no evidence of contribution to population-based disease burden for SFTPC, CHPT1, LPCAT1, or PCYT1B.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>CONCLUSIONS:<\/jats:title>\n                  <jats:p>In contrast to lethal neonatal RDS resulting from homozygous or compound heterozygous ABCA3 mutations, single ABCA3 mutations are overrepresented among European-descent infants \u226534 weeks\u2019 gestation with RDS and account for \u223c10.9% of the attributable risk among term and late preterm infants. Although ABCA3 mutations are individually rare, they are collectively common among European- and African-descent individuals in the general population.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1542\/peds.2012-0918","type":"journal-article","created":{"date-parts":[[2012,11,20]],"date-time":"2012-11-20T01:45:16Z","timestamp":1353375916000},"page":"e1575-e1582","source":"Crossref","is-referenced-by-count":103,"title":["Single <i>ABCA3<\/i> Mutations Increase Risk for Neonatal Respiratory Distress Syndrome"],"prefix":"10.1542","volume":"130","author":[{"given":"Jennifer A.","family":"Wambach","sequence":"first","affiliation":[{"name":"Division of Newborn Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Wegner","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelcey","family":"DePass","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hillary","family":"Heins","sequence":"additional","affiliation":[{"name":"Division of Newborn Medicine,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Todd E.","family":"Druley","sequence":"additional","affiliation":[{"name":"Division of Hematology and Oncology, the Edward Mallinckrodt Department of Pediatrics,"},{"name":"Center for Genome Sciences and Systems Biology, Department of Genetics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robi D.","family":"Mitra","sequence":"additional","affiliation":[{"name":"Center for Genome Sciences and Systems Biology, Department of Genetics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ping","family":"An","sequence":"additional","affiliation":[{"name":"Division of Statistical Genomics, Washington University School of Medicine, St Louis, Missouri; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qunyuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Division of Statistical Genomics, Washington University School of Medicine, St Louis, Missouri; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lawrence M.","family":"Nogee","sequence":"additional","affiliation":[{"name":"Division of Neonatal\u2013Perinatal Medicine, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. 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