title: Description of two new ABCB11 mutations responsible for type 2 benign recurrent intrahepatic cholestasis in a French-Canadian family.
abstract: 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.
authors.affiliation: Liver Unit, Centre hospitalier de l'Université de Montréal, Montréal, Québec.
authors.forename: Yannick
authors.initials: Y
authors.lastname: Beauséjour
authors.forename: Fernando
authors.initials: F
authors.lastname: Alvarez
authors.forename: Martin
authors.initials: M
authors.lastname: Beaulieu
authors.forename: Marc
authors.initials: M
authors.lastname: Bilodeau
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence / Q000235:genetics; D001648:Bile Canaliculi / Q000002:abnormalities*; D002170:Canada; D002780:Cholestasis, Intrahepatic / Q000235:genetics / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics; D044465:White People
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters