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

Hassib Narchi; Suhailah Alhefeiti; Fatmah Althabahi; Jozef Hertecant; A. Knisely; Abdul Kader Souid

doi:10.4103/sjg.SJG_178_17

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

Hassib Narchi
, Suhailah Alhefeiti
, Fatmah Althabahi
, Jozef Hertecant
, A. Knisely
, Abdul Kader Souid

Research output: Contribution to journal › Article › peer-review

1 Citation (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	303-305
Number of pages	3
Journal	Saudi Journal of Gastroenterology
Volume	23
Issue number	5
DOIs	https://doi.org/10.4103/sjg.SJG_178_17
Publication status	Published - Sept 1 2017

Keywords

ATP8B1
benign recurrent intrahepatic cholestasis
progressive familial intrahepatic cholestasis
whole exome sequencing

ASJC Scopus subject areas

Gastroenterology

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10.4103/sjg.SJG_178_17

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

abstract = "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.",

keywords = "ATP8B1, benign recurrent intrahepatic cholestasis, progressive familial intrahepatic cholestasis, whole exome sequencing",

author = "Hassib Narchi and Suhailah Alhefeiti and Fatmah Althabahi and Jozef Hertecant and A. Knisely and Souid, \{Abdul Kader\}",

year = "2017",

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T1 - Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)

AU - Narchi, Hassib

AU - Alhefeiti, Suhailah

AU - Althabahi, Fatmah

AU - Hertecant, Jozef

AU - Knisely, A.

AU - Souid, Abdul Kader

PY - 2017/9/1

Y1 - 2017/9/1

N2 - 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.

AB - 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.

KW - ATP8B1

KW - benign recurrent intrahepatic cholestasis

KW - progressive familial intrahepatic cholestasis

KW - whole exome sequencing

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AN - SCOPUS:85029768900

SN - 1319-3767

VL - 23

SP - 303

EP - 305

JO - Saudi Journal of Gastroenterology

JF - Saudi Journal of Gastroenterology

IS - 5

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

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