Impaired expression and function of the bile salt export pump due to three novel ABCB11 mutations in intrahepatic cholestasis

The intron 4 (+3)A>C, R930X and R432T represent previously undescribed mutations of the ABCB11 gene that confer a PFIC2 and a BRIC2 phenotype, respectively. By combining functional in-vitro characterization with immunohistochemical detection of variant BSEP we provide direct evidence for the role of ABCB11 mutations in the pathogenesis of different forms of intrahepatic cholestasis.