Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
| Autor: | AS Knisely, Fatmah Althabahi, Jozef Hertecant, Abdul-Kader Souid, Hassib Narchi, Suhailah Alhefeiti |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty business.industry benign recurrent intrahepatic cholestasis Benign Recurrent Intrahepatic Cholestasis Gastroenterology Progressive familial intrahepatic cholestasis Case Report medicine.disease whole exome sequencing 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Cholestasis ATP8B1 Internal medicine Mutation (genetic algorithm) medicine 030211 gastroenterology & hepatology progressive familial intrahepatic cholestasis lcsh:Diseases of the digestive system. Gastroenterology lcsh:RC799-869 business Exome sequencing |
| Zdroj: | The Saudi Journal of Gastroenterology, Vol 23, Iss 5, Pp 303-305 (2017) Saudi Journal of Gastroenterology : Official Journal of the Saudi Gastroenterology Association |
| ISSN: | 1998-4049 1319-3767 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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