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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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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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creator	Lam, Ching-Wan Cheung, Ka-Ming Tsui, Man-Shan Yan, Matthew Shu-Ching Lee, Ching-Yin Tong, Sui-Fan
description	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.
doi_str_mv	10.1016/j.jhep.2005.09.013
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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.</description><subject>ABCB11 gene</subject><subject>Adolescent</subject><subject>ATP Binding Cassette Subfamily B Member 11</subject><subject>ATP-Binding Cassette Transporters - genetics</subject><subject>Benign recurrent intrahepatic cholestasis</subject><subject>Biological and medical sciences</subject><subject>BRIC2</subject><subject>Cholestasis, Intrahepatic - genetics</subject><subject>Cholestasis, Intrahepatic - metabolism</subject><subject>Disease Progression</subject><subject>DNA - genetics</subject><subject>Gastroenterology. Liver. Pancreas. Abdomen</subject><subject>Humans</subject><subject>Liver. Biliary tract. Portal circulation. Exocrine pancreas</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Mutation</subject><subject>Other diseases. 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Liver. Pancreas. Abdomen</topic><topic>Humans</topic><topic>Liver. Biliary tract. Portal circulation. Exocrine pancreas</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Mutation</topic><topic>Other diseases. 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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
title	A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
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