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 BRIC2 and PFIC2.
Lam
Ching-Wan
CW
Department of Chemical Pathology, The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong, China. ching-wanlam@cuhk.edu.hk
Cheung
Ka-Ming
KM
Tsui
Man-Shan
MS
Yan
Matthew Shu-Ching
MS
Lee
Ching-Yin
CY
Tong
Sui-Fan
SF
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
C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D004247:DNA