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

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Bibliographic Details
Published in:Journal of hepatology 2006-01, Vol.44 (1), p.240-242
Main Authors: Lam, Ching-Wan, Cheung, Ka-Ming, Tsui, Man-Shan, Yan, Matthew Shu-Ching, Lee, Ching-Yin, Tong, Sui-Fan
Format: Article
Language:English
Subjects:
ABCB11 gene
Adolescent
ATP Binding Cassette Subfamily B Member 11
ATP-Binding Cassette Transporters - genetics
Benign recurrent intrahepatic cholestasis
Biological and medical sciences
BRIC2
Cholestasis, Intrahepatic - genetics
Cholestasis, Intrahepatic - metabolism
Disease Progression
DNA - genetics
Gastroenterology. Liver. Pancreas. Abdomen
Humans
Liver. Biliary tract. Portal circulation. Exocrine pancreas
Male
Medical sciences
Mutation
Other diseases. Semiology
PFIC2
Phenotype
Polymerase Chain Reaction
Progressive familial intrahepatic cholestasis
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Summary: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.
ISSN:0168-8278
1600-0641
DOI:10.1016/j.jhep.2005.09.013