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Cite this page: Hill, M.A. (2019, June 16) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Talk:Alagille_Syndrome
Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome
Pediatr Int. 2015 Feb 13. doi: 10.1111/ped.12602. [Epub ahead of print]
Cho JM1, Oh SH, Kim HJ, Kim JS, Kim KM, Kim GH, Yu E, Lee BH, Yoo HW.
BACKGROUND: Alagille syndrome (AGS) is a multisystem autosomal dominant disorder that affects the liver, heart, eyes, face, bone, and other organs. AGS is caused by mutations in one of two genes, JAG1 or NOTCH2. We evaluated clinical features, outcomes, and the presence of JAG1 and NOTCH2 mutations in Korean children with AGS. PATIENTS AND METHODS: Between January 1997 and December 2013, 19 children were diagnosed with AGS at Asan Medical Center, Seoul, Korea. Their clinical features, outcomes, and JAG1 and NOTCH2 mutation status were retrospectively analyzed. RESULTS: The prevalence of clinical features in the 19 patients is as follows: Dysmorphic facial features, 100% (n=19); liver symptoms, 89% (n=17); cardiac symptoms, 95% (n=18); ophthalmologic symptoms, 67% (n=10); skeletal deformities, 47% (n=9); and renal symptoms, 21% (n=4). JAG1 mutations were identified in 14 patients. The thirteen different JAG1 mutations, seven of which were novel, included four deletions, three insertions, two missense mutations, three nonsense mutations, and one indel mutation. No NOTCH2 mutations were found. Two patients who received liver transplantation due to liver failure are still alive. Two patients died of comorbidities related to AGS, one of cardiac failure and one of hepatic failure. CONCLUSION: This study reports the clinical characteristics of 19 Korean AGS patients with seven novel JAG1 mutations. Neonatal cholestatic jaundice was the most common initial presenting symptom; thus the presence of neonatal cholestasis warrants screening patients for syndromic features of AGS. Complex heart anomalies and progressive liver dysfunctions have resulted in significant morbidity and mortality in AGS. This article is protected by copyright. All rights reserved. KEYWORDS: treatment outcome; Alagille syndrome; Jagged 1; Notch2 receptor; cholestasis
Variable expression of Alagille syndrome in a family with a new JAG1 gene mutation
Cardiol Young. 2015 Jan 23:1-4. [Epub ahead of print]
Ziesenitz VC1, Loukanov T2, Gläser C3, Gorenflo M1.
We report the case of a patient with tetralogy of Fallot with absent pulmonary valve and familial Alagille syndrome who successfully underwent cardiac repair. The patient's sister had liver and congenital heart disease. The father had undergone liver transplantation but showed no significant cardiac abnormalities. A yet-unknown mutation of the JAG1 gene was discovered in this family with variable expression of Alagille syndrome. KEYWORDS: Alagille syndrome; JAG1; Notch signalling; absent pulmonary valve; tetralogy of Fallot