| ISSN |
1948-5182 (online) |
| Open Access |
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. |
| Article Reprints |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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| Publisher |
Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA |
| Website |
http://www.wjgnet.com |
| Category |
Gastroenterology & Hepatology |
| Manuscript Type |
Case Report |
| Article Title |
Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature
|
| Manuscript Source |
Invited Manuscript |
| All Author List |
Mariano Piazzolla, Nicola Castellaneta, Antonio Novelli, Emanuele Agolini, Dario Cocciadiferro, Leonardo Resta, Loren Duda, Michele Barone, Enzo Ierardi and Alfredo Di Leo |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Enzo Ierardi, MD, Academic Fellow, Associate Professor, Doctor, Doctor, Section of Gastroenterology, Department of Emergency and Organ Transplantation, University of Bari, Piazza Giulio Cesare 11, Bari 70124, Italy. e.ierardi@virgilio.it |
| Key Words |
Benign recurrent intrahepatic cholestasis; ATP8B1/ABCB11 genes; Jaundice; Heterozygous variant of ATP8B1 gene (c.1558A>T); Familial inheritance; Case report |
| Core Tip |
Benign recurrent intrahepatic cholestasis is a rare genetic disorder characterized by recurrent jaundice due to the mutation of the ATP8B1/ABCB11 genes encoding for hepato-canalicular transporters. The original finding, which characterizes the case we observed, is the association of a novel nonsense variant of ATP8B1 gene (c.1558A>T) in a heterozygous condition with hepato-canalicular transporter protein deficiency. Indeed, the disorder has been described until now as an autosomal recessive one, whereas, in this case, the patient expressed the disease despite having only one mutated allele of ATP8B1 gene. |
| Publish Date |
2020-02-27 07:38 |
| Citation |
Piazzolla M, Castellaneta N, Novelli A, Agolini E, Cocciadiferro D, Resta L, Duda L, Barone M, Ierardi E, Di Leo A. Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature. World J Hepatol 2020; 12(2): 64-71 |
| URL |
https://www.wjgnet.com/1948-5182/full/v12/i2/64.htm |
| DOI |
https://dx.doi.org/10.4254/wjh.v12.i2.64 |
