Crigler-Najjar syndrome type 2.

Abstract

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 micromol/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 (Gly71Arg/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.

• Authors: Ching-Shan Huang, Nancy Tan, Sien-Sing Yang, Yung-Chan Sung, May-Jen Huang
• Journal: Journal of the Formosan Medical Association = Taiwan yi zhi (J Formos Med Assoc) Vol. 105 Issue 11 Pg. 950-3 (Nov 2006) ISSN: 0929-6646 [Print] Singapore
• PMID: 17098698 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• UGT1A1 enzyme
• Glucuronosyltransferase
• Bilirubin

Topics

• Adult
• Bilirubin (blood)
• Child
• Crigler-Najjar Syndrome (blood, genetics)
• Female
• Genetic Variation
• Glucuronosyltransferase (genetics)
• Humans
• Mutation
• Taiwan