Progressive familial intrahepatic cholestasis type 2 (PFIC2), also known as bile salt export pump (BSEP) deficiency disease, is a rare autosomal recessive inherited liver disease caused by mutations in the ABCB11 gene (located on chromosome 2q24-31), leading to impaired bile secretion.1 This evidence concerns the gene ABCB11 and progressive familial intrahepatic cholestasis type 2.