Novel 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 NOTCH...

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Autores principales: Brennan, Alisa, Kesavan, Anil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390567/
https://www.ncbi.nlm.nih.gov/pubmed/28465853
http://dx.doi.org/10.1155/2017/1368189
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author Brennan, Alisa
Kesavan, Anil
author_facet Brennan, Alisa
Kesavan, Anil
author_sort Brennan, Alisa
collection PubMed
description 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.
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spelling pubmed-53905672017-05-02 Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome Brennan, Alisa Kesavan, Anil Case Rep Pediatr Case Report 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. Hindawi 2017 2017-03-29 /pmc/articles/PMC5390567/ /pubmed/28465853 http://dx.doi.org/10.1155/2017/1368189 Text en Copyright © 2017 Alisa Brennan and Anil Kesavan. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Brennan, Alisa
Kesavan, Anil
Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
title Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
title_full Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
title_fullStr Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
title_full_unstemmed Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
title_short Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome
title_sort novel heterozygous mutations in jag1 and notch2 genes in a neonatal patient with alagille syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5390567/
https://www.ncbi.nlm.nih.gov/pubmed/28465853
http://dx.doi.org/10.1155/2017/1368189
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