{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,25]],"date-time":"2025-06-25T07:13:18Z","timestamp":1750835598598},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,5,6]],"date-time":"2015-05-06T00:00:00Z","timestamp":1430870400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2015,8]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Alagille syndrome (AGS<\/jats:styled-content>) is a multisystem autosomal dominant disorder that affects the liver, heart, eyes, face, bone, and other organs. AGS<\/jats:styled-content> is caused by mutations in one of two genes, JAG1<\/jats:styled-content><\/jats:italic> or NOTCH2<\/jats:styled-content><\/jats:italic>. We evaluated clinical features, outcomes, and the presence of JAG1<\/jats:styled-content><\/jats:italic> and NOTCH2<\/jats:styled-content><\/jats:italic> mutations in K<\/jats:styled-content>orean children with AGS<\/jats:styled-content>.<\/jats:p><\/jats:sec>Methods<\/jats:title>Between J<\/jats:styled-content>anuary 1997 and D<\/jats:styled-content>ecember 2013, 19 children were diagnosed with AGS<\/jats:styled-content> at A<\/jats:styled-content>san M<\/jats:styled-content>edical C<\/jats:styled-content>enter, S<\/jats:styled-content>eoul, K<\/jats:styled-content>orea. Their clinical features, outcomes, and JAG1<\/jats:styled-content><\/jats:italic> and NOTCH2<\/jats:styled-content><\/jats:italic> mutation status were retrospectively analyzed.<\/jats:p><\/jats:sec>Results<\/jats:title>The prevalence of clinical features in the 19 patients was as follows: dysmorphic facial features, 100% (n<\/jats:italic> = 19); liver symptoms, 89% (n<\/jats:italic> = 17); cardiac symptoms, 95% (n<\/jats:italic> = 18); ophthalmologic symptoms, 67% (n<\/jats:italic> = 10); skeletal deformities, 47% (n<\/jats:italic> = 9); and renal symptoms, 21% (n<\/jats:italic> = 4). JAG1<\/jats:styled-content><\/jats:italic> mutations were identified in 14 patients. The 13 different JAG1<\/jats:styled-content><\/jats:italic> mutations, seven of which were novel, included four deletions, three insertions, two missense mutations, three nonsense mutations, and one indel mutation. No NOTCH2<\/jats:styled-content><\/jats:italic> mutations were found. Two patients who received liver transplantation due to liver failure were still alive. Two patients died of comorbidities related to AGS<\/jats:styled-content>: one of cardiac failure and one of hepatic failure.<\/jats:p><\/jats:sec>Conclusion\u2002<\/jats:title>This study describes the clinical characteristics of 19 K<\/jats:styled-content>orean AGS<\/jats:styled-content> patients with seven novel JAG1<\/jats:styled-content><\/jats:italic> mutations. Neonatal cholestatic jaundice was the most common initial presenting symptom; thus the presence of neonatal cholestasis warrants screening for syndromic features of AGS<\/jats:styled-content>. Complex heart anomalies and progressive liver dysfunction resulted in significant morbidity and mortality in AGS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.12602","type":"journal-article","created":{"date-parts":[[2015,2,13]],"date-time":"2015-02-13T13:27:26Z","timestamp":1423834046000},"page":"552-557","source":"Crossref","is-referenced-by-count":13,"title":["Clinical features, outcomes, and genetic analysis in K<\/scp>orean children with A<\/scp>lagille syndrome"],"prefix":"10.1111","volume":"57","author":[{"given":"Jin Min","family":"Cho","sequence":"first","affiliation":[{"name":"Department of Pediatrics Asan Medical Center Children's Hospital University of Ulsan College of Medicine Seoul Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seak Hee","family":"Oh","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Asan Medical Center Children's Hospital University of Ulsan College of Medicine Seoul 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