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; received in revised form 9 September 2005; accepted 6 December 2005.

Article Outline

Crigler-Najjar syndrome is a rare disorder of bilirubin metabolism with two distinct forms: type 1 and type 2. We report three patients with Crigler-Najjar syndrome type 2 (CN-2). All patients had serum bilirubin values higher than 171 μmol/L and deep yellow skin color. The results of other liver function tests, glucose-6-phosphate dehydrogenase activity and hematology tests were normal, and immunologic tests for hepatitis A, B and C were negative, although one patient had slightly elevated alanine aminotransferase level (45 IU/L). Polymerase chain reaction and sequence analysis of the UDP-glucuronosyltransferase 1A1 (UGT1A1) gene revealed a novel homozygous T > A mutation at nucleotide 479 in exon 1 (Val160Glu) of patient 1, a novel homozygous A >G mutation at nucleotide 610 in exon 1 (Met204Val) of patient 2, and a homozygous T >G variation at nucleotide 1456 in exon 5 (Tyr486Asp) plus a heterozygous G > A variation at nucleotide 211 in exon 1 (Gly71 Arg/normal) of patient 3. Two of these mutations were novel and variations identified within the coding region of the UGT1A1 gene were considered the cause of CN-2 in all three patients.

Key Words:  Crigler-Najjar syndrome , glucuronosyltransferase , novel mutation

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References 

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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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