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 journalArticlepeer-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 languageEnglish
Pages (from-to)303-305
Number of pages3
JournalSaudi Journal of Gastroenterology
Volume23
Issue number5
DOIs
Publication statusPublished - Sep 1 2017

Keywords

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

ASJC Scopus subject areas

  • Gastroenterology

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