ABCMdb

PMID: 21219577

Shimizu H, Migita O, Kosaki R, Kasahara M, Fukuda A, Sakamoto S, Shigeta T, Uemoto S, Nakazawa A, Kakiuchi T, Arai K
Living-related liver transplantation for siblings with progressive familial intrahepatic cholestasis 2, with novel genetic findings.
Am J Transplant. 2011 Feb;11(2):394-8. doi: 10.1111/j.1600-6143.2010.03397.x. Epub 2011 Jan 10., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCB11 p.Val444Ala ABCB11 p.Ser901Arg ABCB11 p.Cys1083Tyr Results Mutation screening in ABCB11 identified three missense changes in the proband (II-2): V444A, S901R and C1083Y. Login to comment 72 ABCB11 p.Val444Ala Variant V444A was described earlier in a population-based sample (10). Login to comment 74 ABCB11 p.Ser901Arg ABCB11 p.Cys1083Tyr We also identified the S901R and C1083Y missense changes in ABCB11 in the sibling (II-1). Login to comment 75 ABCB11 p.Ser901Arg ABCB11 p.Cys1083Tyr Variant C1083Y occurred in the mother (I-2), and S901R was identified in a liver specimen from the father (I-1). Login to comment 104 ABCB11 p.Asp482Gly ABCB11 p.Glu297Gly ABCB11 p.Arg1268Gln ABCB11 p.Gly238Val ABCB11 p.Arg1153Cys ABCB11 p.Arg1153Cys ABCB11 p.Gly982Arg ABCB11 p.Cys336Ser ABCB11 p.Arg575* ABCB11 p.Arg1090* ABCB11 p.Ser593Arg ABCB11 p.Lys461Glu ABCB11 p.Arg1057* The common mutations include E297G, R575X, R1057X, G982R, C336S, R1153C, D482G, K461E, R1153C, R1268Q, R1090X, G238V, S114R, S593R, del 695 and del 3213 (22). Login to comment 105 ABCB11 p.Ser901Arg ABCB11 p.Ser901Arg ABCB11 p.Cys1083Tyr ABCB11 p.Cys1083Tyr In our case report, genetic testing revealed that two siblings both had identical missense mutations (S901R, C1083Y) in ABCB11, inherited from their father (S901R) and mother (C1083Y). Login to comment 108 ABCB11 p.Ser901Arg ABCB11 p.Cys1083Tyr The novel S901R, C1083Y missense mutations can therefore be considered genetic determinants of PFIC-2. Login to comment 113 ABCB11 p.Ser901Arg ABCB11 p.Cys1083Tyr Summary Two novel missense mutations (S901R and C1083Y) of the BSEP are described which are thought to give rise to PFIC-2. Login to comment