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Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by variable abnormalities of liver, heart, face, skeleton, kidneys, vasculature and eyes. It is associated with variants in JAG1 and NOTCH2… Click to show full abstract
Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by variable abnormalities of liver, heart, face, skeleton, kidneys, vasculature and eyes. It is associated with variants in JAG1 and NOTCH2 , encoding for a NOTCH signaling pathway (NSP) ligand and receptor, respectively. Pathogenic JAG1/NOTCH2 variants commonly affect the coding or splice site region. Here, we functionally characterized the previously by us 1 detected first JAG1 5'UTR variant: NC_000020.10: g.10654278G>A, NM_000214.3: c. (cid:1) 100C>T and classified it as pathogenic (according to the ACMG criteria).
Journal Title: Clinical Genetics
Year Published: 2022
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