Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family
Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic ch...
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| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2011-01-01
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| Series: | Canadian Journal of Gastroenterology |
| Online Access: | http://dx.doi.org/10.1155/2011/534918 |
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| _version_ | 1832558745599606784 |
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| author | Yannick Beauséjour Fernando Alvarez Martin Beaulieu Marc Bilodeau |
| author_facet | Yannick Beauséjour Fernando Alvarez Martin Beaulieu Marc Bilodeau |
| author_sort | Yannick Beauséjour |
| collection | DOAJ |
| description | Benign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis. |
| format | Article |
| id | doaj-art-a28e0462b51240f1a9140f03d16946c0 |
| institution | Kabale University |
| issn | 0835-7900 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Canadian Journal of Gastroenterology |
| spelling | doaj-art-a28e0462b51240f1a9140f03d16946c02025-02-03T01:31:41ZengWileyCanadian Journal of Gastroenterology0835-79002011-01-0125631131410.1155/2011/534918Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian FamilyYannick Beauséjour0Fernando Alvarez1Martin Beaulieu2Marc Bilodeau3Liver Unit, Centre hospitalier de l’Université de Montréal, CanadaDepartment of Pediatrics, Centre hospitalier universitaire Sainte-Justine, CanadaDepartment of Biochemistry, Centre hospitalier de l’Université de Montréal, Montréal, Québec, CanadaLiver Unit, Centre hospitalier de l’Université de Montréal, CanadaBenign recurrent intrahepatic cholestasis is a rare clinical entity that is caused by mutations in the canalicular transport genes. The present report describes two individuals from the same family whose symptoms were typical of the clinical characteristics of type 2 benign recurrent intrahepatic cholestasis. Sequencing of the ABCB11 gene revealed two previously unreported mutations that predict the absence of expression of the protein. The clinical presentation of the current cases are discussed, as are the differential diagnosis and genetic characteristics of the hereditary cholestatic disorders, overemphasizing the possibility of making a definite genetic diagnosis.http://dx.doi.org/10.1155/2011/534918 |
| spellingShingle | Yannick Beauséjour Fernando Alvarez Martin Beaulieu Marc Bilodeau Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family Canadian Journal of Gastroenterology |
| title | Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family |
| title_full | Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family |
| title_fullStr | Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family |
| title_full_unstemmed | Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family |
| title_short | Description of Two New ABCB11 Mutations Responsible for Type 2 Benign Recurrent Intrahepatic Cholestasis in a French-Canadian Family |
| title_sort | description of two new abcb11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a french canadian family |
| url | http://dx.doi.org/10.1155/2011/534918 |
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