Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome-Reference-Cited by-同舟云学术

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

Published:2017 Issue: Volume:2017 Page:1-4
ISSN:2090-6803
Container-title:Case Reports in Pediatrics
language:en
Short-container-title:Case Reports in Pediatrics

Author:

Brennan Alisa¹,Kesavan Anil²^ORCID

Affiliation:

1. Rush Medical College, 600 S. Paulina St., Chicago, IL 60612, USA

2. Section of Pediatric Gastroenterology, Rush University Medical Center, Professional Building, 1725 W. Harrison Street, Suite 710, Chicago, IL 60612, USA

Abstract

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.

Publisher

Hindawi Limited

Subject

General Medicine

Link

http://downloads.hindawi.com/journals/cripe/2017/1368189.pdf

Reference10 articles.

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2. Clinical and molecular genetics of Alagille syndrome

3. Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

4. Intense pruritus and failure to thrive in Alagille syndrome

5. NOTCH2mutations in Alagille syndrome

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