Sequencing of ATP8B1, ABCB11 and ABCB4 revealed 135 genetic variants in 374 unrelated patients with suspected intrahepatic cholestasis

ATP8B1, ABCB11, and ABCB4 encode the aminophospholipidflippase familial intrahepatic cholestasis 1 (FIC1), the bile salt export pump (BSEP), and the phospholipidfloppase multidrug resistance protein 3 (MDR3), respectively, that play central roles in bile formation. Mutations in these transporters are associated with cholestatic liver diseases of varying severity ranging from milder forms like intrahepatic cholestasis of pregnancy (ICP), benign recurrent intrahepatic cholestasis (BRIC) or low phospholipid-associated cholelithiasis (LPAC) to progressive familial intrahepatic cholestasis (PFIC). At present, gene sequencing is the main method to investigate the genetic background of these different types of intrahepatic cholestasis.