Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11

Gastroenterology

Volumn 127, Issue 2, 2004, Pages 379-384

  Van Mil, Saskia W C ^a   Van Der Woerd, Wendy L ^a   Van Der Brugge, Gerda ^a   Sturm, Ekkehard ^b   Jansen, Peter L M ^b   Bull, Laura N ^c   Van Den Berg, Inge E T ^a   Berger, Ruud ^a   Houwen, Roderick H J ^a   Klomp, Leo W J ^a  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

benign recurrent intrahepatic cholestasis; benign recurrent intrahepatic cholestasis type 1; benign recurrent intrahepatic cholestasis type 2; bile salt export pump; BRIC; BRIC1; BRIC2; BSEP; PFIC; PFIC1; progressive familial intrahepatic cholestasis

Indexed keywords

ABCB11 GENE; ADOLESCENT; ADULT; ARTICLE; BENIGN RECURRENT INTRAHEPATIC CHOLESTASIS TYPE 2; CHOLELITHIASIS; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; DISEASE SEVERITY; EXON; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC PREDISPOSITION; HUMAN; INTRAHEPATIC CHOLESTASIS; LIVER DISEASE; MALE; MISSENSE MUTATION; NOMENCLATURE; PANCREATITIS; PATHOGENESIS; PRIORITY JOURNAL; RECURRENT DISEASE; SEQUENCE ANALYSIS;

EID: 4143073631     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2004.04.065     Document Type: Article

References (30)

1. Bull L.N., van Eijk M.J., Pawlikowska L., DeYoung J.A., Juijn J.A., Liao M., Klomp L.W., Lomri N., Berger R., Scharschmidt B.F., Knisely A.S., Houwen R.H., Freimer N.B. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet. 18:1998;219-224
2. Chen H.L., Chang P.S., Hsu H.C., Ni Y.H., Hsu H.Y., Lee J.H., Jeng Y.M., Shau W.Y., Chang M.H. FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyl transpeptidase levels. J Pediatr. 140:2002;119-124
3. Klomp L.W., Bull L.N., Knisely A.S., Der Doelen M.A., Juijn J.A., Berger R., Forget S., Nielsen I.M., Eiberg H., Houwen R.H. A missense mutation in FIC1 is associated with greenland familial cholestasis. Hepatology. 32:2000;1337-1341
4. Strautnieks S.S., Bull L.N., Knisely A.S., Kocoshis S.A., Dahl N., Arnell H., Sokal E., Dahan K., Childs S., Ling V., Tanner M.S., Kagalwalla A.F., Nemeth A., Pawlowska J., Baker A., Mieli-Vergani G., Freimer N.B., Gardiner R.M., Thompson R.J. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet. 20:1998;233-238
5. Gerloff T., Stieger B., Hagenbuch B., Madon J., Landmann L., Roth J., Hofmann A.F., Meier P.J. The sister of P-glycoprotein represents the canalicular bile salt export pump of mammalian liver. J Biol Chem. 273:1998;10046-10050
6. Bull L.N., Carlton V.E., Stricker N.L., Baharloo S., DeYoung J.A., Freimer N.B., Magid M.S., Kahn E., Markowitz J., DiCarlo F.J., McLoughlin L., Boyle J.T., Dahms B.B., Faught P.R., Fitzgerald J.F., Piccoli D.A., Witzleben C.L., O'Connell N.C., Setchell K.D., Agostini R.M., Kocoshis S.A., Reyes J., Knisely A.S. Genetic and morphological findings in progressive familial intrahepatic cholestasis (Byler disease [PFIC-1] and Byler syndrome) evidence for heterogeneity. Hepatology. 26:1997;155-164
7. Knisely A.S. Progressive familial intrahepatic cholestasis a personal perspective. Pediatr Dev Pathol. 3:2000;113-125
8. Lykavieris P., van Mil S., Cresteil D., Fabre M., Hadchouel M., Klomp L., Bernard O., Jacquemin E. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol. 39:2003;447-452
9. Egawa H., Yorifuji T., Sumazaki R., Kimura A., Hasegawa M., Tanaka K. Intractable diarrhea after liver transplantation for Byler's disease successful treatment with bile adsorptive resin. Liver Transpl. 8:2002;714-716
10. Bull L., Freimer N., Czubkowski P., Pawlowska J., Jankowska I., Lacaille F., McLean P., van Eerde A., Klomp L., Houwen R.H., Bourke B., Barton D.E., Antoniou A., Knisely A.S., Mieli-Vergani G., Strautnieks S., Thompson R. Clinical and biochemical features of FIC1 (ATP8B1) and BSEP (ABCB11) disease. Hepatology. 36:2002;310A
11. Tygstrup N., Steig B.A., Juijn J.A., Bull L.N., Houwen R.H. Recurrent familial intrahepatic cholestasis in the Faeroe Islands. Phenotypic heterogeneity but genetic homogeneity. Hepatology. 29:1999;506-508
12. Summerskill W.H.J., Walshe J.M. Benign recurrent intrahepatic obstructive jaundice. Lancet. 2:1959;686-690
13. Klomp L.W., Vargas J.C., van Mil S.W., Pawlikowska L., Strautnieks S.S., van Eijk M.J., Juijn J.A., Pabon-Pena C., Smith L.B., DeYoung J.A., Byrne J.A., Gombert J., van der Brugge G., Berger R., Jankowska I., Pawlowska J., Villa E., Knisley A.S., Thompson R.J., Freimer N.B., Houwen R.H., Bull L.N. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology. 40:2004;27-38
14. Leabman M.K., Huang C.C., DeYoung J., Carlson E.J., Taylor T.R., de la C.M., Johns S.J., Stryke D., Kawamoto M., Urban T.J., Kroetz D.L., Ferrin T.E., Clark A.G., Risch N., Herskowitz I., Giacomini K.M. Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A. 100:2003;5896-5901
15. Jansen P.L., Strautnieks S.S., Jacquemin E., Hadchouel M., Sokal E.M., Hooiveld G.J., Koning J.H., Jager-Krikken A., Kuipers F., Stellaard F., Bijleveld C.M., Gouw A., Van Goor H., Thompson R.J., Muller M. Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis. Gastroenterology. 117:1999;1370-1379
16. Kullak-Ublick G.A., Kerb R., Mullhaubt B., Renner E.I., Penger A., Brinkmann U., Stieger B., Meier P.J. A novel R432T mutation in the bile salt export pump gene (BSEP;ABCB11) is associated with recurrent intrahepatic cholestasis in an adolescent patient (abstr). Hepatology. 34:2001;216
17. Floreani A., Molaro M., Mottes M., Sangalli A., Baragiotta A., Roda A., Naccarato R., Clementi M. Autosomal dominant benign recurrent intrahepatic cholestasis (BRIC) unlinked to 18q21 and 2q24. Am J Med Genet. 95:2000;450-453
18. Byrne J.A., Strautnieks S.S., Mieli-Vergani G., Higgins C.F., Linton K.J., Thompson R.J. The human bile salt export pump characterization of substrate specificity and identification of inhibitors. Gastroenterology. 123:2002;1649-1658
19. Noe J., Stieger B., Meier P.J. Functional expression of the canalicular bile salt export pump of human liver. Gastroenterology. 123:2002;1659-1666
20. Wang L., Soroka C.J., Boyer J.L. The role of bile salt export pump mutations in progressive familial intrahepatic cholestasis type II. J Clin Invest. 110:2002;965-972
21. van Ooteghem N.A., Klomp L.W., Berge-Henegouwen G.P., Houwen R.H. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis low GGT cholestasis is a clinical continuum. J Hepatol. 36:2002;439-443
22. Sturm E., Franssen C.F., Gouw A., Staels B., Boverhof R., De Knegt R.J., Stellaard F., Bijleveld C.M., Kuipers F. Extracorporal albumin dialysis (MARS) improves cholestasis and normalizes low apo A-I levels in a patient with benign recurrent intrahepatic cholestasis (BRIC). Liver. 22:(Suppl 2):2002;72-75
23. van Mil S.W., Klomp L.W., Bull L.N., Houwen R.H. FIC1 disease a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis. 21:2001;535-544
24. Eppens E.F., van Mil S.W., de Vree J.M., Mok K.S., Juijn J.A., Oude Elferink R.P., Berger R., Houwen R.H., Klomp L.W. FIC1, the protein affected in two forms of hereditary cholestasis, is localized in the cholangiocyte and the canalicular membrane of the hepatocyte. J Hepatol. 35:2001;436-443
25. Ujhazy P., Ortiz D., Misra S., Li S., Moseley J., Jones H., Arias I.M. Familial intrahepatic cholestasis 1 studies of localization and function. Hepatology. 34:2001;768-775
26. Wittenburg H., Lyons M.A., Paigen B., Carey M.C. Mapping cholesterol gallstone susceptibility (Lith) genes in inbred mice. Dig Liver Dis. 35:(Suppl 3):2003;S2-S7
27. Bouchard G., Nelson H.M., Lammert F., Rowe L.B., Carey M.C., Paigen B. High-resolution maps of the murine chromosome 2 region containing the cholesterol gallstone locus, Lith1. Mamm Genome. 10:1999;1070-1074
28. Carey M.C., Small D.M. The physical chemistry of cholesterol solubility in bile. Relationship to gallstone formation and dissolution in man. J Clin Invest. 61:1978;998-1026
29. Strautnieks S., Byrne J.A., Knisely A.S., Bull L., Sokal E., Lacaille F., Vergani G., Thompson R. There must be a third locus for low GGT PFIC. Hepatology. 34:2001;240A
30. Carlton V.E., Harris B.Z., Puffenberger E.G., Batta A.K., Knisely A.S., Robinson D.L., Strauss K.A., Shneider B.L., Lim W.A., Salen G., Morton D.H., Bull L.N. Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT. Nat Genet. 34:2003;91-96