Publication: Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
Issued Date
2009-12-07
Resource Type
ISSN
10079327
Other identifier(s)
2-s2.0-70349565554
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Mahidol University
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SCOPUS
Bibliographic Citation
World Journal of Gastroenterology. Vol.15, No.34 (2009), 4339-4342
Suggested Citation
Suporn Treepongkaruna, Amornphun Gaensan, Paneeya Pienvichit, Ondrej Luksan, A. S. Knisely, Pattana Sornmayura, Milan Jirsa Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis. World Journal of Gastroenterology. Vol.15, No.34 (2009), 4339-4342. doi:10.3748/wjg.15.4339 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/27793
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Title
Novel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
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.