Indel in the FIC1/ATP8B1 gene-a novel rare type of mutation associated with benign recurrent intrahepatic cholestasis.
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.
Jirsa
Milan
M
Laboratory of Experimental Hepatology, Institute of Clinical and Experimental Medicine, Videnska 1958/9, 140 21 Praha 4 - Krc, Czech Republic.
Cebecauerova
Dita
D
Budisova
Lucie
L
Chuzhanova
Nadia
N
Hrebicek
Martin
M
Dvorakova
Lenka
L
Vitek
Libor
L
Brodanova
Marie
M
Hulek
Petr
P
Taimr
Pavel
P