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The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.

Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families

Open access
Strautnieks, Sandra S., Byrne, Jane A., Pawlikowska, Ludmila, Cebecauerová, Dita, Rayner, Anne, Dutton, Laura, Meier, Yvonne, Antoniou, Anthony, Stieger, Bruno, Arnell, Henrik, Özçay, Figen, Al–Hussaini, Hussa F., Bassas, Atif F., Verkade, Henkjan J., Fischler, Björn, Németh, Antal, Kotalová, Radana, Shneider, Benjamin L., Cielecka–Kuszyk, Joanna, McClean, Patricia, Whitington, Peter F., Sokal, Étienne, Jirsa, Milan, Wali, Sami H., Jankowska, Irena, Pawłowska, Joanna, Mieli–Vergani, Giorgina, Knisely, A.S., Bull, Laura N., Thompson, Richard J.·2008·Gastroenterology
DOI 10.1053/j.gastro.2008.01.038
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Abstract

BACKGROUND & AIMS Patients with severe bile salt export pump (BSEP) deficiency present as infants with progressive cholestatic liver disease. We characterized mutations of ABCB11 (encoding BSEP) in such patients and correlated genotypes with residual protein detection and risk of malignancy. METHODS Patients with intrahepatic cholestasis suggestive of BSEP deficiency were investigated by single-strand conformation polymorphism analysis and sequencing of ABCB11. Genotypes sorted by likely phenotypic severity were correlated with data on BSEP immunohistochemistry and clinical outcome. RESULTS Eighty-two different mutations (52 novel) were identified in 109 families (9 nonsense mutations, 10 small insertions and deletions, 15 splice-site changes, 3 whole-gene deletions, 45 missense changes). In 7 families, only a single heterozygous mutation was identified despite complete sequence analysis. Thirty-two percent of mutations occurred in >1 family, with E297G and/or D482G present in 58% of European families (52/89). On immunohistochemical analysis (88 patients), 93% had abnormal or absent BSEP staining. Expression varied most for E297G and D482G, with some BSEP detected in 45% of patients (19/42) with these mutations. Hepatocellular carcinoma or cholangiocarcinoma developed in 15% of patients (19/128). Two protein-truncating mutations conferred particular risk; 38% (8/21) of such patients developed malignancy versus 10% (11/107) with potentially less severe genotypes (relative risk, 3.7 [confidence limits, 1.7-8.1; P = .003]). CONCLUSIONS With this study, >100 ABCB11 mutations are now identified. Immunohistochemically detectable BSEP is typically absent, or much reduced, in severe disease. BSEP deficiency confers risk of hepatobiliary malignancy. Close surveillance of BSEP-deficient patients retaining their native liver, particularly those carrying 2 null mutations, is essential.

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Authors
Strautnieks, S. S., Byrne, J. A., Pawlikowska, L., Cebecauerová, D., Rayner, A., Dutton, L., Meier, Y., Antoniou, A., Stieger, B., Arnell, H., Özçay, F., Al–Hussaini, H. F., Bassas, A. F., Verkade, H. J., Fischler, B., Németh, A., Kotalová, R., Shneider, B. L., Cielecka–Kuszyk, J., McClean, P., Whitington, P. F., Sokal, É., Jirsa, M., Wali, S. H., Jankowska, I., Pawłowska, J., Mieli–Vergani, G., Knisely, A. S., Bull, L. N., & Thompson, R. J.
Venue
Gastroenterology
Publisher
Elsevier BV
Published
2008-04
Volume
134
Issue
4
Pages
1203-1214.e8
ISSN
0016-5085 (ISSN-L)
DOI
10.1053/j.gastro.2008.01.038
OpenAlex
W2171075953
Cited by
384
References
43
FWCI
13.24
Type
journal article
Language
en
Open access
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CoChat. (2026). Citation check: Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families. https://app.cochat.ai/papers/10.1053/j.gastro.2008.01.038
The paper
Strautnieks, S. S., Byrne, J. A., Pawlikowska, L., Cebecauerová, D., Rayner, A., Dutton, L., Meier, Y., Antoniou, A., Stieger, B., Arnell, H., Özçay, F., Al–Hussaini, H. F., Bassas, A. F., Verkade, H. J., Fischler, B., Németh, A., Kotalová, R., Shneider, B. L., Cielecka–Kuszyk, J., . . . Thompson, R. J. (2008). Severe Bile Salt Export Pump Deficiency: 82 Different ABCB11 Mutations in 109 Families. Gastroenterology. https://doi.org/10.1053/j.gastro.2008.01.038

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.