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  • Title: Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V).
    Author: Narchi H, Alhefeiti S, Althabahi F, Hertecant J, Knisely AS, Souid AK.
    Journal: Saudi J Gastroenterol; 2017; 23(5):303-305. PubMed ID: 28937026.
    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.
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