{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T16:02:20Z","timestamp":1791302540248,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,3,22]],"date-time":"2007-03-22T00:00:00Z","timestamp":1174521600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2007,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Background: Loss of function mutations in the surfactant protein\u2010B gene (<jats:italic>SFTPB<\/jats:italic>) cause lethal neonatal respiratory distress due to reduced or absent expression of mature surfactant protein B (SP\u2010B, encoded in exons 6 and 7). No large deletions in <jats:italic>SFTPB<\/jats:italic> have been previously identified.<\/jats:p><jats:p>Aim: Genomic, proteomic and immunohistochemical characterization of a 3 kb deletion in <jats:italic>SFTPB.<\/jats:italic><\/jats:p><jats:p>Methods: A full\u2010term newborn presented with refractory respiratory failure. We amplified and sequenced <jats:italic>SFTPB<\/jats:italic> from the infant and both parents, determined SP\u2010B protein expression in tracheal aspirate samples using Western\u2010blot analysis, and performed immunohistochemical staining and electron microscopy of lung biopsy tissue.<\/jats:p><jats:p>Results: The infant was homozygous for a 2958 bp deletion in <jats:italic>SFTPB<\/jats:italic> that included exons 7 and 8. Both asymptomatic parents were heterozygous for the deletion. A truncated mature SP\u2010B peptide was detected on Western blotting of tracheal aspirate. Amino acid sequence specific to that encoded in exon 5 was present, but that encoded by exon 7 was absent. ProSP\u2010B expression was robust within alveolar type II cells and lamellar body structure was disrupted.<\/jats:p><jats:p>Conclusions: This deletion in <jats:italic>SFTPB<\/jats:italic> resulted in SP\u2010B deficiency due to absence of elements in mature SP\u2010B that are critical for appropriate peptide folding, trafficking and processing.<\/jats:p>","DOI":"10.1111\/j.1651-2227.2006.00188.x","type":"journal-article","created":{"date-parts":[[2008,4,30]],"date-time":"2008-04-30T20:57:20Z","timestamp":1209589040000},"page":"516-520","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["A major deletion in the surfactant protein\u2010B gene causing lethal respiratory distress"],"prefix":"10.1111","volume":"96","author":[{"given":"Daniel 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Sessions","family":"Cole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Hamvas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,3,22]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.physiol.63.1.555"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022387"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4889(89)90201-2"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199302113280606"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)70348-2"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI117173"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1165\/ajrcmb.22.3.3645"},{"key":"e_1_2_7_9_2","doi-asserted-by":"crossref","first-page":"1046","DOI":"10.1542\/peds.96.6.1046","article-title":"Partial 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