{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,15]],"date-time":"2026-09-15T22:46:13Z","timestamp":1789512373791,"version":"build-2803163510"},"reference-count":30,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2017,8,2]],"date-time":"2017-08-02T00:00:00Z","timestamp":1501632000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Grant-in-Aid for Young Scientists (B)","award":["26870489"],"award-info":[{"award-number":["26870489"]}]},{"name":"Grant-in-Aid for Young Scientists (B)","award":["16K21280"],"award-info":[{"award-number":["16K21280"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Acta Paediatrica"],"published-print":{"date-parts":[[2017,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Aim<\/jats:title><jats:p>We evaluated combined genetic analyses with targeted next\u2010generation sequencing (NGS), multiplex ligation probe amplification (MLPA) of <jats:italic>Jagged1<\/jats:italic> (<jats:italic>JAG1)<\/jats:italic> genes and microarray comparative genomic hybridisation (CGH) in subjects with Alagille syndrome, incomplete clinical features of Alagille syndrome and biliary atresia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Subjects recruited from April 2013 to December 2015 underwent a targeted NGS analysis, including <jats:italic>JAG1<\/jats:italic> and <jats:italic>Notch homolog 2<\/jats:italic> (<jats:italic>NOTCH2)<\/jats:italic>. If no mutations were detected in <jats:italic>JAG1<\/jats:italic> or <jats:italic>NOTCH2,<\/jats:italic> or if copy number variations were suggested by the NGS analysis, we performed an MLPA analysis of <jats:italic>JAG1<\/jats:italic>. We also performed a microarray CGH analysis with whole\u2010exon deletion detected by the MLPA analysis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We analysed 30 subjects with Alagille syndrome, nine with incomplete Alagille syndrome and 17 with biliary atresia and detected pathogenic mutations in <jats:italic>JAG1<\/jats:italic> or <jats:italic>NOTCH2<\/jats:italic> in 24\/30 subjects with Alagille syndrome and in 4\/9 subjects with incomplete Alagille syndrome. No pathogenic mutations were detected in subjects with biliary atresia. The frequency of <jats:italic>JAG1<\/jats:italic> mutations was as follows: single nucleotide variants (51.9%), small insertion or deletion (29.6%) and gross deletion (18.5%).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Combined genetic analyses achieved efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1111\/apa.13981","type":"journal-article","created":{"date-parts":[[2017,7,11]],"date-time":"2017-07-11T08:36:54Z","timestamp":1499762214000},"page":"1817-1824","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome"],"prefix":"10.1111","volume":"106","author":[{"given":"Kei","family":"Ohashi","sequence":"first","affiliation":[{"name":"Department of Pediatrics and Neonatology 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