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| Research article summary (published 12 Sep 2009): |
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis.
Full Abstract
Progressive familial intrahepatic cholestasis (PFIC) type 2 is caused by mutations in ABCB11, which encodes bile salt export pump (BSEP). We report a Thai female infant who presented with progressive cholestatic jaundice since 1 mo of age, with normal serum gamma-glutamyltransferase. Immunohistochemical staining of the liver did not demonstrate BSEP along the canaliculi, while multidrug resistance protein 3 was expressed adequately. Novel mutations in ABCB11, a four-nucleotide deletion in exon 3, c.90_93delGAAA, and a single-nucleotide insertion in exon 5, c.249_250insT, were identified, with confirmation in her parents. These mutations were predicted to lead to synthesis of truncated forms of BSEP. Immunostaining and mutation analysis thus established the diagnosis of PFIC type 2.
Author information
Author/s: Treepongkaruna, Suporn (S); Gaensan, Amornphun (A); Pienvichit, Paneeya (P); Luksan, Ondrej (O); Knisely, A S (AS); Sornmayura, Pattana (P); Jirsa, Milan (M);
Affiliation: Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand. rastp(-atsign-)mahidol.ac.th
Journal and publication information
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Journal: World journal of gastroenterology : WJG (World J Gastroenterol), published in China. (Language: eng)
Reference: 2009-Sep; vol 15 (issue 34) : pp 4339-42
Dates: Created 2009/09/14; Completed 2009/09/30;
PMID: 19750581, status: MEDLINE (last retrieval date: 9/30/2009, IMS Date: )
Sourced from the National Library of Medicine. Abstract text and other information may be subject to copyright.
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