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

J Hepatol. 2006 Jan;44(1):240-2. doi: 10.1016/j.jhep.2005.09.013. Epub 2005 Nov 2.

Abstract

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. I498T and 2098delA. The correlation of the patient's genotypes with the clinical course supports the existence of a phenotypic continuum between BRIC2 and PFIC2.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Cholestasis, Intrahepatic / genetics*
  • Cholestasis, Intrahepatic / metabolism
  • DNA / genetics*
  • Disease Progression
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction

Substances

  • ABCB11 protein, human
  • ATP Binding Cassette Transporter, Subfamily B, Member 11
  • ATP-Binding Cassette Transporters
  • DNA