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Pediatric Reports
Volume 11
Issue 3
10.4081/pr.2019.8206
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Pediatric Reports is published by MDPI from Volume 12 Issue 3 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

Novel Mutations in NOTCH2 Gene in Infants with Neonatal Cholestasis

by
Eliana Shaul
1,
Debora Kogan-Liberman
2,
Stephanie Schuckalo
3,
Dominique Jan
4,
Michelle Ewart
5,
Trang Nguyen
2,
Mercedes Martinez
6 and
Nadia Ovchinsky
2,3,*
1
Department of Pediatrics, Children’s Hospital at Montefiore, Bronx, NY
2
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Hospital at Montefiore, Bronx, NY
3
Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Goryeb Children’s Hospital - Atlantic Health System, Morristown, NJ
4
Department of Pediatric Surgery, Children’s Hospital at Montefiore, Bronx, NY
5
Division of Surgical Pathology, Montefiore Medical Center, Bronx, NY
6
Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Morgan Stanley Children’s Hospital of New York, NY
7
Division of Pediatric Gastroenterology, Hepatology and Nutrition, Children’s Hospital at Montefiore, Bronx, NY; Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Goryeb Children’s Hospital - Atlantic Health System, Morristown, NJ
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2019, 11(3), 8206; https://doi.org/10.4081/pr.2019.8206
Submission received: 14 June 2019 / Revised: 22 June 2019 / Accepted: 29 June 2019 / Published: 30 September 2019

Abstract

One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 in 94% of patients and mutations in the NOTCH2 receptor in <1% of patients. This is a retrospective case series studying infants with neonatal cholestasis found to have variants of unknown significance (VOUS) in NOTCH2. Sorting intolerant from tolerant (SIFT) and polymorphism phenotyping (PolyPhen) were utilized to predict a damaging effect. Five infants with NC without other features of Alagille syndrome were found to have one copy of a VOUS in NOTCH2, predicted to be damaging by SIFT and PolyPhen. Our cases support the notion that NOTCH2 mutations may result in hypoplastic biliary system. Further characterization of these variants is important to assist with our clinical approach to NC.
Keywords: paucity of intrahepatic bile ducts; NOTCH2; neonatal cholestasis paucity of intrahepatic bile ducts; NOTCH2; neonatal cholestasis

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MDPI and ACS Style

Shaul, E.; Kogan-Liberman, D.; Schuckalo, S.; Jan, D.; Ewart, M.; Nguyen, T.; Martinez, M.; Ovchinsky, N. Novel Mutations in NOTCH2 Gene in Infants with Neonatal Cholestasis. Pediatr. Rep. 2019, 11, 8206. https://doi.org/10.4081/pr.2019.8206

AMA Style

Shaul E, Kogan-Liberman D, Schuckalo S, Jan D, Ewart M, Nguyen T, Martinez M, Ovchinsky N. Novel Mutations in NOTCH2 Gene in Infants with Neonatal Cholestasis. Pediatric Reports. 2019; 11(3):8206. https://doi.org/10.4081/pr.2019.8206

Chicago/Turabian Style

Shaul, Eliana, Debora Kogan-Liberman, Stephanie Schuckalo, Dominique Jan, Michelle Ewart, Trang Nguyen, Mercedes Martinez, and Nadia Ovchinsky. 2019. "Novel Mutations in NOTCH2 Gene in Infants with Neonatal Cholestasis" Pediatric Reports 11, no. 3: 8206. https://doi.org/10.4081/pr.2019.8206

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