A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2

We describe a PFIC2 patient with a good response to ursodeoxycholic acid for 9 years. We found two novel ABCB11 gene mutations in the patient, i.e. 1498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2. (c) 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.