Alagille Syndrome: A Novel Mutation in JAG1 Gene
نویسندگان
چکیده
منابع مشابه
Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center
PURPOSE Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a critical factor for determining the prognosis. METHODS We conducted a retrospective study of 41 pat...
متن کاملAdult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation
Alagille syndrome (AGS) is an autosomal-dominant multi-organ disorder involving the liver, heart, eyes, face and skeleton. In addition, various renal abnormalities have also been reported in several cases. We describe a patient with a novel frameshift mutation in exon 12 of the JAG1 gene who presented with chronic renal failure. In this family, five members of three generations had clinical fea...
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Alagille syndrome (ALGS) is a multisystem autosomal dominant disorder caused by defects in the Notch signaling pathway. The classical criteria for ALGS diagnosis include bile duct paucity on liver biopsy in association with three of the following: Cholestasis, congenital heart disease, vertebral abnormalities, characteristic facial features, and posterior embryotoxon. However, the diagnosis is ...
متن کاملJAG1 Mutation Spectrum and Origin in Chinese Children with Clinical Features of Alagille Syndrome
Alagille syndrome is an autosomal dominant disorder that results from defects in the Notch signaling pathway, which is most frequently due to JAG1 mutations. This study investigated the rate, spectrum, and origin of JAG1 mutations in 91 Chinese children presenting with at least two clinical features of Alagille syndrome (cholestasis, heart murmur, skeletal abnormalities, ocular abnormalities, c...
متن کاملNovel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, an...
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ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2019
ISSN: 2296-2360
DOI: 10.3389/fped.2019.00199