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Title: Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
Authors: Suporn Treepongkaruna
Amornphun Gaensan
Paneeya Pienvichit
Ondrej Luksan
A. S. Knisely
Pattana Sornmayura
Milan Jirsa
Mahidol University
Institutu Klinicke a Experimentalni Mediciny
King's College Hospital NHS Foundation Trust
Keywords: Medicine
Issue Date: 7-Dec-2009
Citation: World Journal of Gastroenterology. Vol.15, No.34 (2009), 4339-4342
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. © 2009 The WJG Press and Baishideng. All rights reserved.
ISSN: 10079327
Appears in Collections:Scopus 2006-2010

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