Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients wit...

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Autores principales: Narchi, Hassib, Alhefeiti, Suhailah, Althabahi, Fatmah, Hertecant, Jozef, Knisely, A. S., Souid, Abdul-Kader
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625368/
https://www.ncbi.nlm.nih.gov/pubmed/28937026
http://dx.doi.org/10.4103/sjg.SJG_178_17
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author Narchi, Hassib
Alhefeiti, Suhailah
Althabahi, Fatmah
Hertecant, Jozef
Knisely, A. S.
Souid, Abdul-Kader
author_facet Narchi, Hassib
Alhefeiti, Suhailah
Althabahi, Fatmah
Hertecant, Jozef
Knisely, A. S.
Souid, Abdul-Kader
author_sort Narchi, Hassib
collection PubMed
description We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects.
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spelling pubmed-56253682017-10-05 Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V) Narchi, Hassib Alhefeiti, Suhailah Althabahi, Fatmah Hertecant, Jozef Knisely, A. S. Souid, Abdul-Kader Saudi J Gastroenterol Case Report We report two Omani brothers with intrahepatic cholestasis that resolved with supportive care. In one, cholestasis began in infancy; in the other, only at the age of 18 months. Whole exome sequencing identified a novel homozygous variant, c.379C>G (p.L127V) in ATP8B1. Those attending patients with cholestasis from the Arabian peninsula should be aware of this mutation and of the variation in its phenotypic effects. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5625368/ /pubmed/28937026 http://dx.doi.org/10.4103/sjg.SJG_178_17 Text en Copyright: © 2017 Saudi Journal of Gastroenterology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Case Report
Narchi, Hassib
Alhefeiti, Suhailah
Althabahi, Fatmah
Hertecant, Jozef
Knisely, A. S.
Souid, Abdul-Kader
Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
title Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
title_full Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
title_fullStr Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
title_full_unstemmed Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
title_short Intrahepatic cholestasis in two Omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
title_sort intrahepatic cholestasis in two omani siblings associated with a novel homozygous atp8b1 mutation, c.379c>g (p.l127v)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625368/
https://www.ncbi.nlm.nih.gov/pubmed/28937026
http://dx.doi.org/10.4103/sjg.SJG_178_17
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