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Molecular Medicine Reports
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Print ISSN: 1791-2997 Online ISSN: 1791-3004
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September 2012 Volume 6 Issue 3

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International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

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International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

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Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

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Article

Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient

  • Authors:
    • Wei-Liang Liu
    • Fang Li
    • Zhi-Xu He
    • Hong-Yu Jiang
    • Rong Ai
    • Xiao-Xia Chen
    • Kang Huang
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, Affiliated Hospital of Guiyang Medical College, Guiyang 550004, P.R. China, Department of Ophthalmology, Affiliated Hospital of Guiyang Medical College, Guiyang 550004, P.R. China
  • Pages: 667-669
    |
    Published online on: June 15, 2012
       https://doi.org/10.3892/mmr.2012.950
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Abstract

Crigler-Najjar (CN) syndrome is a rare autosomal recessive inherited disorder characterized by non-hemolytic, unconjugated hyperbilirubinemia. The levels of serum bilirubin and the response to phenobarbital treatment have been used to classify CN syndrome into two types: CN I and II. Mutations of the UGT1A1 gene have been found to be responsible for cases of CN syndrome. In the present study, the clinical features of a boy with an unusual type of CN syndrome were analysed. A DNA sample was obtained from the patient, and the promoter region, the exons and flanking intronic sequences of the UGT1A1 gene were analysed using the polymerase chain reaction and sequencing. The case was similar to CN type I in clinical features, but the therapeutic efficacy in the patient was superior to that typically observed in CN type II disease. Sequencing revealed compound heterozygous mutations, c.211G>A (p.G71R), c.1470C>T (p.D490D) and a normal homozygous A[TA]6TAA. No similar case has been reported worldwide and, considering the specific clinical features and therapeutic efficacy, a distinct type of CN was suspected. The phenotype of this unusual CN syndrome patient may be associated with the specific genotype.
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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. 25:3252005. View Article : Google Scholar : PubMed/NCBI

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Bosma PJ, Roy Chowdhury N, Goldhoorn BG, et al: Sequence of exons and flanking regions of human bilirubin UDP-glucuronosyltransferase gene complex and identification of a genetic mutation in a patient with Crigler-Najjar syndrome type I. Hepatology. 15:941–947. 1992. View Article : Google Scholar : PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Liu W, Li F, He Z, Jiang H, Ai R, Chen X and Huang K: Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. Mol Med Rep 6: 667-669, 2012.
APA
Liu, W., Li, F., He, Z., Jiang, H., Ai, R., Chen, X., & Huang, K. (2012). Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. Molecular Medicine Reports, 6, 667-669. https://doi.org/10.3892/mmr.2012.950
MLA
Liu, W., Li, F., He, Z., Jiang, H., Ai, R., Chen, X., Huang, K."Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient". Molecular Medicine Reports 6.3 (2012): 667-669.
Chicago
Liu, W., Li, F., He, Z., Jiang, H., Ai, R., Chen, X., Huang, K."Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient". Molecular Medicine Reports 6, no. 3 (2012): 667-669. https://doi.org/10.3892/mmr.2012.950
Copy and paste a formatted citation
x
Spandidos Publications style
Liu W, Li F, He Z, Jiang H, Ai R, Chen X and Huang K: Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. Mol Med Rep 6: 667-669, 2012.
APA
Liu, W., Li, F., He, Z., Jiang, H., Ai, R., Chen, X., & Huang, K. (2012). Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient. Molecular Medicine Reports, 6, 667-669. https://doi.org/10.3892/mmr.2012.950
MLA
Liu, W., Li, F., He, Z., Jiang, H., Ai, R., Chen, X., Huang, K."Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient". Molecular Medicine Reports 6.3 (2012): 667-669.
Chicago
Liu, W., Li, F., He, Z., Jiang, H., Ai, R., Chen, X., Huang, K."Analysis of bilirubin UDP-glucuronosyltransferase gene mutations in an unusual Crigler-Najjar syndrome patient". Molecular Medicine Reports 6, no. 3 (2012): 667-669. https://doi.org/10.3892/mmr.2012.950
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