Saudi Journal of Gastroenterology
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CASE REPORT
Year : 2017  |  Volume : 23  |  Issue : 5  |  Page : 303-305

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


1 Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, United Arab Emirates
2 Department of Pediatrics, Tawam Hospital, United Arab Emirates
3 Institute of Liver Studies, King's College Hospital, London SE5 9RS, England, United Kingdom; Institut für Pathologie, Medizinische Universität Graz, 8036 Graz, Austria

Correspondence Address:
Hassib Narchi
Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al Ain PO Box 17666
United Arab Emirates
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/sjg.SJG_178_17

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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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