TY - JOUR
T1 - Intrahepatic cholestasis in two omani siblings associated with a novel homozygous ATP8B1 mutation, c.379C>G (p.L127V)
AU - Narchi, Hassib
AU - Alhefeiti, Suhailah
AU - Althabahi, Fatmah
AU - Hertecant, Jozef
AU - Knisely, A.
AU - Souid, Abdul Kader
PY - 2017/9/1
Y1 - 2017/9/1
N2 - 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.
AB - 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.
KW - ATP8B1
KW - benign recurrent intrahepatic cholestasis
KW - progressive familial intrahepatic cholestasis
KW - whole exome sequencing
UR - http://www.scopus.com/inward/record.url?scp=85029768900&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85029768900&partnerID=8YFLogxK
U2 - 10.4103/sjg.SJG_178_17
DO - 10.4103/sjg.SJG_178_17
M3 - Article
C2 - 28937026
AN - SCOPUS:85029768900
SN - 1319-3767
VL - 23
SP - 303
EP - 305
JO - Saudi Journal of Gastroenterology
JF - Saudi Journal of Gastroenterology
IS - 5
ER -