title: 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 attacks of severe cholestasis with no progression to end stage liver disease. Patients have jaundice, however, serum gamma-glutamyltransferase and cholesterol levels remain within the normal range during the attacks. Three mutations in the familial intrahepatic cholestasis 1 (ATP8B1) gene encoding a P-type ATPase have been reported so far in patients with the autosomal recessive form of BRIC. A novel rare type insertion-deletion mutation, also called indel, was found in exon 24 of ATP8B1 in our patient together with a known missense mutation 1982T>C in exon 17. The mechanism of the indel formation is proposed and impact of the indel mutation on the function of ATP8B1 protein is discussed.
authors.affiliation: Laboratory of Experimental Hepatology, Institute of Clinical and Experimental Medicine, Videnska 1958/9, 140 21 Praha 4 - Krc, Czech Republic.
authors.forename: Milan
authors.initials: M
authors.lastname: Jirsa
authors.forename: Dita
authors.initials: D
authors.lastname: Cebecauerova
authors.forename: Lucie
authors.initials: L
authors.lastname: Budisova
authors.forename: Nadia
authors.initials: N
authors.lastname: Chuzhanova
authors.forename: Martin
authors.initials: M
authors.lastname: Hrebicek
authors.forename: Lenka
authors.initials: L
authors.lastname: Dvorakova
authors.forename: Libor
authors.initials: L
authors.lastname: Vitek
authors.forename: Marie
authors.initials: M
authors.lastname: Brodanova
authors.forename: Petr
authors.initials: P
authors.lastname: Hulek
authors.forename: Pavel
authors.initials: P
authors.lastname: Taimr