Case Reports in Pediatrics (Jan 2017)

Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome

  • Alisa Brennan,
  • Anil Kesavan

DOI
https://doi.org/10.1155/2017/1368189
Journal volume & issue
Vol. 2017

Abstract

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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, and malrotation with volvulus.