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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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/1368189 |
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| _version_ | 1832545706259251200 |
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| author | Alisa Brennan Anil Kesavan |
| author_facet | Alisa Brennan Anil Kesavan |
| author_sort | Alisa Brennan |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-43ab13becbd747ffbf216d3a86eb0fc3 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-43ab13becbd747ffbf216d3a86eb0fc32025-02-03T07:24:50ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/13681891368189Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille SyndromeAlisa Brennan0Anil Kesavan1Rush Medical College, 600 S. Paulina St., Chicago, IL 60612, USASection of Pediatric Gastroenterology, Rush University Medical Center, Professional Building, 1725 W. Harrison Street, Suite 710, Chicago, IL 60612, USAAlagille 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.http://dx.doi.org/10.1155/2017/1368189 |
| spellingShingle | Alisa Brennan Anil Kesavan Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient with Alagille Syndrome Case Reports in Pediatrics |
| 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 |
| url | http://dx.doi.org/10.1155/2017/1368189 |
| work_keys_str_mv | AT alisabrennan novelheterozygousmutationsinjag1andnotch2genesinaneonatalpatientwithalagillesyndrome AT anilkesavan novelheterozygousmutationsinjag1andnotch2genesinaneonatalpatientwithalagillesyndrome |