title: Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II.
abstract: OBJECTIVE
  Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2.
  
  
  METHODS
  Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced.
  
  
  RESULTS
  All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers.
  
  
  CONCLUSIONS
  The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jae Sung
authors.initials: JS
authors.lastname: Ko
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Ju Young
authors.initials: JY
authors.lastname: Chang
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Moon
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Hye Ran
authors.initials: HR
authors.lastname: Yang
authors.affiliation: Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: Jeong Kee
authors.initials: JK
authors.lastname: Seo
keywords: Bilirubin; Bilirubin uridine-diphosphoglucuronosyl transferase 1A1; Crigler-Najjar syndrome; Mutation
references.citation: Lancet. 1995 Apr 15;345(8955):958-9
references.pmid: 7715297
references.citation: Clin Chem. 2003 Dec;49(12):2078-81
references.pmid: 14633881
references.citation: J Hum Genet. 2013 Jan;58(1):7-10
references.pmid: 23014115
references.citation: Gastroenterology. 1993 Jul;105(1):216-20
references.pmid: 8514037
references.citation: Hepatology. 1992 May;15(5):941-7
references.pmid: 1568736
references.citation: Hum Mutat. 2000 Oct;16(4):297-306
references.pmid: 11013440
references.citation: Clin Genet. 2006 Jun;69(6):525-7
references.pmid: 16712705
references.citation: J Clin Invest. 1994 Dec;94(6):2385-91
references.pmid: 7989595
references.citation: Genomics. 1993 Oct;18(1):171-3
references.pmid: 8276413
references.citation: J Formos Med Assoc. 2006 Nov;105(11):950-3
references.pmid: 17098698
references.citation: J Gastroenterol Hepatol. 2004 Sep;19(9):1023-8
references.pmid: 15304120
references.citation: N Engl J Med. 1995 Nov 2;333(18):1171-5
references.pmid: 7565971
references.citation: Hum Mol Genet. 1995 Jul;4(7):1183-6
references.pmid: 8528206
references.citation: J Clin Invest. 1992 Jul;90(1):150-5
references.pmid: 1634606
references.citation: Pediatr Res. 2011 Feb;69(2):170-4
references.pmid: 20975617
references.citation: Biochim Biophys Acta. 1998 Apr 28;1406(3):267-73
references.pmid: 9630669