Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature | Zendy

Mariano Piazzolla | Zendy; N.M. Castellaneta | Zendy; Antonio Novelli | Zendy; Emanuele Agolini | Zendy; Dario Cocciadiferro | Zendy; Leonardo Resta | Zendy; Loren Duda | Zendy; M. Barone | Zendy; Enzo Ierardi | Zendy; Alfredo Di Leo | Zendy

Open Access

Nonsense 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.

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