Open AccessNovel ABCB11 mutations in a Thai infant with progressive familial intrahepatic cholestasis
Author(s) -
Suporn Treepongkaruna,
Amornphun Gaensan,
Pavit Pienvichit,
Ondřej Lukšan,
A. S. Knisely,
Pattana Sornmayura,
M Jirsa
Publication year - 2009
Publication title -
world journal of gastroenterology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.427
H-Index - 155
eISSN - 2219-2840
pISSN - 1007-9327
DOI - 10.3748/wjg.15.4339
Subject(s) - progressive familial intrahepatic cholestasis , cholestasis , bile salt export pump , exon , immunostaining , biology , mutation , bone canaliculus , missense mutation , medicine , genetics , endocrinology , immunohistochemistry , gene , liver transplantation , transplantation , transporter
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.