title: Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis.
abstract: OBJECTIVE
  To investigate clinical profiles and mutations of ABCB11 in Koreans with progressive familial intrahepatic cholestasis 2 and review the differences between Koreans and others.
  
  
  METHODS
  Of 47 patients with neonatal cholestasis, five infants had chronic intrahepatic cholestasis with normal γ-glutamyl transpeptidase. Direct sequencing analyses of ABCB11, including exons and introns, were performed from peripheral blood.
  
  
  RESULTS
  Living donor-liver transplantation was performed in four patients because of rapidly progressive hepatic failure and hepatocellular carcinoma. Three missense mutations were found in two patients: compound heterozygous 677C>T (S226L)/3007G>A (G1003R) and heterozygous 2296G>A (G766R). The mutations were located near and in the transmembranous space.
  
  
  CONCLUSIONS
  Alterations in the transmembrane of the bile salt export pump in the Korean infants were different from those previously reported in Chinese, Japanease, Taiwanese, and European patients.
authors.affiliation: Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.
authors.forename: Ji Sook
authors.initials: JS
authors.lastname: Park
authors.affiliation: Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.affiliation: Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
authors.affiliation: Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Moon
authors.affiliation: Ji Sook Park, Jae Sung Ko, Jeong Kee Seo, Jin Soo Moon, Department of Pediatrics, Seoul National University College of Medicine, Seoul 110-799, South Korea.
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
mesh_terms: D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D001706:Biopsy; D006528:Carcinoma, Hepatocellular / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics; D002780:Cholestasis, Intrahepatic / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics* / Q000601:surgery; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D042882:Gallstones / Q000000981:diagnostic imaging / Q000208:ethnology / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D016031:Liver Transplantation / Q000379:methods; D019520:Living Donors; D008297:Male; D008854:Microscopy, Electron; D020125:Mutation, Missense; D010641:Phenotype; D011379:Prognosis; D056910:Republic of Korea; D012189:Retrospective Studies; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
chemical_list: C093491:ABCB11 protein, human; D000074020:ATP Binding Cassette Transporter, Subfamily B, Member 11; D018528:ATP-Binding Cassette Transporters
keywords: ABCB11; Bile salt export pump; Hepatocellular carcinoma; Progressive familial intrahepatic cholestasis