| CASE REPORT |
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| Year : 2017 | Volume
: 23
| Issue : 5 | Page : 303-305 |
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Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
Hassib Narchi1, Suhailah Alhefeiti1, Fatmah Althabahi1, Jozef Hertecant2, AS Knisely3, Abdul-Kader Souid1
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
 Source of Support: None, Conflict of Interest: None  | Check |
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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