Open AccessNonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature
Author(s) -
Mariano Piazzolla,
N.M. Castellaneta,
Antonio Novelli,
Emanuele Agolini,
Dario Cocciadiferro,
Leonardo Resta,
Loren Duda,
M. Barone,
Enzo Ierardi,
Alfredo Di Leo
Publication year - 2020
Publication title -
world journal of hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.913
H-Index - 55
ISSN - 1948-5182
DOI - 10.4254/wjh.v12.i2.64
Subject(s) - cholestasis , medicine , cholestasis of pregnancy , nonsense mutation , ursodeoxycholic acid , progressive familial intrahepatic cholestasis , liver biopsy , intrahepatic bile ducts , gastroenterology , missense mutation , pathology , gene , genetics , biopsy , mutation , biology , bile duct , fetus , pregnancy , transplantation , liver transplantation
Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters. Herein, we firstly provide the evidence that a nonsense variant of ATP8B1 gene (c.1558A>T) in heterozygous form is involved in BRIC pathogenesis.