title: Crigler-Najjar syndrome type II in a Chinese boy resulting from three mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene and a family genetic analysis.
abstract: BACKGROUND
  The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1 (UGT1A1), for bilirubin metabolism. Many mutations have already been identified in patients with inherited disorders with unconjugated hyperbilirubinemia, such as Crigler-Najjar syndromes and Gilbert's syndrome.
  
  
  METHODS
  In this report, we presented a boy with intermittent unconjugated hyperbilirubinemia, whose genetic analysis showed a new compound heterozygote determined by three mutations, c.211G > A (p.G71R), c.508_510delTTC (p.F170-) and c.1456 T > G (p.Y486D) in the hotspot regions of the UGT1A1 gene (exons 1 and 5) in Asian populations, presenting a genotype compatible with clinical picture of CNS-II. The family genetic analysis confirmed the origin of these mutations.
  
  
  CONCLUSIONS
  UGT1A1 gene analysis should be performed in all cases with unexplained unconjugated hyperbilirubinemia. The description of patients with peculiar genotypes especially including family analysis could help explain the relationship between the genotype and phenotype,it is helpful for clinicians to predict the outcome of the patients.
authors.forename: Bixia
authors.initials: B
authors.lastname: Zheng
authors.forename: Guorui
authors.initials: G
authors.lastname: Hu
authors.forename: Jin
authors.initials: J
authors.lastname: Yu
authors.affiliation: Department of Gastroenterology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, Nanjing 210008, China. liuzfnj@hotmail.com.
authors.forename: Zhifeng
authors.initials: Z
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D002681:China; D003414:Crigler-Najjar Syndrome / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005838:Genotype; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D010375:Pedigree; D000099148:UGT1A1 Enzyme
chemical_list: D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme