Treepongkaruna S, Gaensan A, Pienvichit P, Luksan O, Knisely A, Sornmayura P, Jirsa M. Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. World J Gastroenterol 2009; 15(34): 4339-4342 [PMID: 19750581 DOI: 10.3748/wjg.15.4339]
Corresponding Author of This Article
Suporn Treepongkaruna, MD, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand. rastp@mahidol.ac.th
Article-Type of This Article
Case Report
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World J Gastroenterol. Sep 14, 2009; 15(34): 4339-4342 Published online Sep 14, 2009. doi: 10.3748/wjg.15.4339
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
Suporn Treepongkaruna, Amornphun Gaensan, Paneeya Pienvichit, Ondrej Luksan, AS Knisely, Pattana Sornmayura, Milan Jirsa
Suporn Treepongkaruna, Amornphun Gaensan, Paneeya Pienvichit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand
Ondrej Luksan, Milan Jirsa, Institute for Clinical and Experimental Medicine, Prague 14021, Czech Republic
AS Knisely, Institute of Liver Studies, King’s College Hospital, London SE5 9RS, United Kingdom
Pattana Sornmayura, Department of Pathology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand
Author contributions: Treepongkaruna S, Gaensan A, Pienvichit P and Sornmayura P were involved in collecting the clinical data, writing and editing the manuscript; Luksan O and Jirsa M analyzed the mutations and participated in editing the manuscript; Knisely AS analyzed the pathological and immunostaining data and also participated in editing the manuscript.
Supported by “IKEM MZO 00023001”
Correspondence to: Suporn Treepongkaruna, MD, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand. rastp@mahidol.ac.th
Telephone: +66-2-2011446 Fax: +66-2-2011446
Received: June 4, 2009 Revised: July 29, 2009 Accepted: August 6, 2009 Published online: September 14, 2009
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 γ-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.
