Alagille Syndrome: Difference between revisions
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==Introduction== | ==Introduction== | ||
Alagille syndrome is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 (JAG1) on chromosome 20p12. Jagged-1 is a ligand in the [[Developmental Signals - Notch|Notch]] receptor signalling pathway. | Alagille syndrome (AGS) is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 (JAG1) on chromosome 20p12. Jagged-1 is a ligand in the [[Developmental Signals - Notch|Notch]] receptor signalling pathway. | ||
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* '<ref><pubmed> | * '''Clinical features, Outcomes, and Genetic analysis in Korean Children with Alagille Syndrome'''<ref name=PMID25676721><pubmed>25676721</pubmed></ref> "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." | ||
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<pubmed limit=5>Jagged-1</pubmed> | <pubmed limit=5>Jagged-1</pubmed> | ||
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Revision as of 18:11, 21 February 2015
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Introduction
Alagille syndrome (AGS) is a genetic disorder affecting the gastrointestinal (liver cholestasis), cardiac (heart), renal (kidney), skeletal, ocular, and facial. Alagille syndrome is transmitted in an autosomal dominant pattern of inheritance (1 in every 100,000 live births) with incomplete penetrance. Caused by mutations in the human homolog of Jagged-1 (JAG1) on chromosome 20p12. Jagged-1 is a ligand in the Notch receptor signalling pathway.
Named after Daniel Alagille (1925 - 2005) a French physician who specialized in pediatric hepatology, the study of childhood liver diseases.
Some Recent Findings
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Jagged-1
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Search Pubmed: Williams Syndrome | GTF2IRD1
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- Genetics Home Reference Alagille Syndrome
- National Institute of Diabetes and Digestive and Kidney Diseases Alagille Syndrome
- OMIM Alagille Syndrome | Jagged 1
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Cite this page: Hill, M.A. (2024, April 25) Embryology Alagille Syndrome. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Alagille_Syndrome
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G