Journal of the Formosan Medical Association
Volume 105, Issue 11 , Pages 950-953 , 2006

Crigler-Najjar Syndrome Type 2

  • Ching-Shan Huang

      Affiliations

    • Department of Medical Technology, Foo-Yin University, Kaohsiung, Singapore
    • Department of Laboratory Medicine, KK Women's and Children's Hospital, Singapore
    • ,
  • Nancy Tan

      Affiliations

    • Department of Pediatric Medicine, KK Women's and Children's Hospital, Singapore
    • ,
  • Sien-Sing Yang

      Affiliations

    • Liver Unit, KK Women's and Children's Hospital, Singapore
    • ,
  • Yung-Chan Sung

      Affiliations

    • Department of Internal Medicine, Cathay General Hospital, Taipei, Taiwan
    • ,
  • May-Jen Huang

      Affiliations

    • Department of Laboratory Medicine, KK Women's and Children's Hospital, Singapore
    • Corresponding Author InformationCorrespondence to: May-Jen Huang, Department of Laboratory Medicine, Cathay General Hospital, 280, Section 4, Jen-Ai Road, Taipei 106, Taiwan

Received 19 July 2005 ,Revised 9 September 2005 ,Accepted 6 December 2005.

References 

  1. Kakadol A , Ghosh SS , Sappal BS , et al.   Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltrans-ferase (UGT1A1) causing Crigler-Najjar and Gilbert's syndromes: correlation of genotype to phenotype . Hum Mutat . 2000;16:297–306
  2. Yamamoto K , Sato H , Fujiyama Y , et al.   Contribution of two missense mutations (G71R and Y486D) of the bilirubin UDP glycosyltransferase (UGT1A1) gene to phenotypes of Gilbert's syndrome and Crigler-Najjar syndrome type II . Biochem Biophys Acta . 1998;1406:267–273
  3. Ciotti M , Werlin SL , Owens IS . Delayed response to pheno-barbital treatment of a Crigler-Najjar type 2 patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene . J Pediatr Gastroenterol Nutrit . 1999;28:210–213
  4. Yamamoto K , Seoda Y , Kamisako T , et al.   Analysis of biliru-bin uridine 5'-diphosphate (UDP)-glucuronosyltransferase gene mutation in seven patients with Crigler-Najjar syndrome type II . J Hum Genet . 1998;43:111–114
  5. Takeuchi K , Kobayashi Y , Tamaki S , et al.   Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyl-transferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects . J Gastroenterol Hepatol . 2004;19:1023–1028
  6. Huang CS , Luo GA , Huang MJ , et al.   A novel compound heterozygous variation of the uridine-diphosphoglucuronosyl transferase 1A1 gene that causes Crigler-Najjar syndrome type II . Pharmacogenetics . 2001;11:639–642
  7. Maruo Y , Poon KK , Ito M , et al.   Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltrans-ferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome . Clin Genet . 2003;64:420–423
  8. Nong SH , Xie YM , Chan KW , et al.   Severe hyperbilirubi-naemia in a Chinese girl with type I Crigler-Najjar syndrome. First case ever reported in Mainland China . J Paediatr Child Health . 2005;41:300–302
  9. Iolascon A , Meloni A , Coppola B , et al.   Crigler-Najjar syndrome type II resulting from three different mutations in the bilirubin uridine 5'-diphosphate-glucuronosyltransferase (UGT1A1) gene . J Med Genet . 2000;37:712–713
  10. Labrune P , Myara A , Chalas J , et al.   Association of a homozy-gous (TA)8 promoter polymorphism and a N400D mutation of UGT1A1 in a child with Crigler-Najjar type II syndrome . Hum Mutat . 2002;20:399–401
  11. Servedio V , d'Apolito M , Maiorano N , et al.   Spectrum of UGT1A1 mutations in Crigler-Najjar (CN) syndrome patients: identification of twelve novel alleles and genotype-phenotype correlation . Hum Mutat . 2005;25:325–333
  12. Huang CS , Luo GA , Huang MJ , et al.   Variations of the biliru-bin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese . Pharmacogenetics . 2000;10:539–544
  13. Hsieh SY , Wu YH , Lin DY , et al.   Correlation of mutation analysis to clinical features in Taiwanese patients with Gilbert's syndrome . Am J Gastroenterology . 2001;96:1188–1193
  14. Huang CS , Huang MJ , Lin MS , et al.   Genetic factors related to unconjugated hyperbilirubinemia amongst adults . Phar-macogenet Genomics . 2005;15:43–50
  15. Huang CS . Molecular genetics of unconjugated hyper-bilirubinemia in Taiwanese . J Biomed Sci. . 2005;12:445–450

PII: S0929-6646(09)60182-0

doi: 10.1016/S0929-6646(09)60182-0

Journal of the Formosan Medical Association
Volume 105, Issue 11 , Pages 950-953 , 2006

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