title: A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2.
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.
authors.affiliation: Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Ka-Ming
authors.initials: KM
authors.lastname: Cheung
authors.forename: Man-Shan
authors.initials: MS
authors.lastname: Tsui
authors.forename: Matthew Shu-Ching
authors.initials: MS
authors.lastname: Yan
authors.forename: Ching-Yin
authors.initials: CY
authors.lastname: Lee
authors.forename: Sui-Fan
authors.initials: SF
authors.lastname: Tong
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000293:Adolescent; D002780:Cholestasis, Intrahepatic / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics*; D018450:Disease Progression; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D016133:Polymerase Chain Reaction
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D004247:DNA