A total absence of functional BSEP was observed in patient A. Since peripheral-blood DNA from patient B was not available, compound heterozygosity in ABCB11 was found in her mother, who presented low GGT intrahepatic cholestasis without HBCs: two mutations were c.890A>G (p.Q297G), previously reported by Strautnieks et al. (1998) [56] and c.2343 + 1G>T, a novel splice site change. This evidence concerns the gene ABCB11 and intrahepatic cholestasis.