Indel in the FIC1/ATP8B1 gene - a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare inherited liver disease characterized by recurrent attacts of severe cholestasis with no progression to end stage liver disease. Three mutations in BRIC have been reposted so far.

A novel rare type insertion-deletion mutation, also called indel formation was found in exon 24 of ATP8B1 in our patient.