Crigler-Najjar syndrome type 2

Journal of the Formosan Medical Association

Volumn 105, Issue 11, 2006, Pages 950-953

  Huang, Ching Shan ^a,b   Tan, Nancy ^c   Yang, Sien Sing ^b   Sung, Yung Chan ^b   Huang, May Jen ^b  

^a Foo Yin University   (Taiwan)

^b CATHAY GENERAL HOSPITAL   (Taiwan)

^c KK WOMEN'S AND CHILDREN'S HOSPITAL   (Singapore)

Author keywords

Crigler Najjar syndrome; Glucuronosyltranferase; Nover mutation

Indexed keywords

ALANINE AMINOTRANSFERASE; ARGININE; ASPARTIC ACID; BILIRUBIN; GLUCURONOSYLTRANSFERASE 1A1; GLUTAMIC ACID; GLYCINE; METHIONINE; NUCLEOTIDE; PHENOBARBITAL; TYROSINE; VALINE;

ADULT; ARTICLE; BILIRUBIN BLOOD LEVEL; CASE REPORT; CRIGLER NAJJAR SYNDROME; CRIGLER NAJJAR SYNDROME TYPE 2; EXON; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; HYPERBILIRUBINEMIA; PHOTOTHERAPY; POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SKIN COLOR;

EID: 33845914351     PISSN: 09296646     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0929-6646(09)60182-0     Document Type: Article

References (15)

1. Kakadol A, Ghosh SS, Sappal BS, et al. Genetic lesions of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (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;1406:267-73.
3. Ciotti M, Werlin SL, Owens IS. Delayed response to phenobarbital treatment of a Crigler-Najjar type 2 patient with partially inactivating missense mutations in the bilirubin UDP-glucuronosyltransferase gene. J Pediatr Gostroenterol Nutrit 1999;28:210-3.
4. Yamamoto K, Seoda Y, Kamisako T, et al. Analysis of bilirubin uridine 5′-diphosphate (UDP)-glucuronosyltransferase gene mutation in seven patients with Crigler-Najjar syndrome type II. J Hum Genet 1998;43:111-4.
5. Takeuchi K, Kobayashi Y, Tamaki S, et al. Genetic polymorphisms of bilirubin uridine diphosphate-glucuronosyltransferase gene in Japanese patients with Crigler-Najjar syndrome or Gilbert's syndrome as well as in healthy Japanese subjects. J Gastroenterol Hepatol 2004;19: 1023-8.
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;11:639-42.
7. Maruo Y, Poon KK, Ito M, et al. Co-occurrence of three different mutations in the bilirubin UDP-glucuronosyltransferase gene in a Chinese family with Crigler-Najjar syndrome type I and Gilbert's syndrome. Clin Genet 2003; 64:420-3.
8. Nong SH, Xie YM, Chan KW, et al. Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome. First case ever reported in Mainland China. J Paediatr Child Health 2005;41:300-2.
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;37:712-3.
10. Labrune P, Myara A, Chalas J, et al. Association of a homozygous (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;25:325-33.
12. Huang CS, Luo GA, Huang MJ, et al. Variations of the bilirubin uridine-diphosphoglucuronosyl transferase 1A1 gene in healthy Taiwanese. Pharmacogenetics 2000;10:539-44.
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: 1188-93.
14. Huang CS, Huang MJ, Lin MS, et al. Genetic factors related to unconjugated hyperbilirubinemia amongst adults. Pharmacogenet Genomics 2005;15:43-50.
15. Huang CS. Molecular genetics of unconjugated hyperbilirubinemia in Taiwanese. J Biomed Sci 2005;12:445-50.