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 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.
authors.affiliation: Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand. rastp@mahidol.ac.th
authors.forename: Suporn
authors.initials: S
authors.lastname: Treepongkaruna
authors.forename: Amornphun
authors.initials: A
authors.lastname: Gaensan
authors.forename: Paneeya
authors.initials: P
authors.lastname: Pienvichit
authors.forename: Ondrej
authors.initials: O
authors.lastname: Luksan
authors.forename: A S
authors.initials: AS
authors.lastname: Knisely
authors.forename: Pattana
authors.initials: P
authors.lastname: Sornmayura
authors.forename: Milan
authors.initials: M
authors.lastname: Jirsa
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics* / Q000378:metabolism; D002780:Cholestasis, Intrahepatic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000175:diagnosis; D007223:Infant; D008099:Liver / Q000378:metabolism / Q000473:pathology; D009154:Mutation; D016133:Polymerase Chain Reaction; D013785:Thailand; D013974:Thyroxine / Q000627:therapeutic use; D005723:gamma-Glutamyltransferase / Q000097:blood
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters; D005723:gamma-Glutamyltransferase; D013974:Thyroxine