Crigler-Najjar syndrome type 2.
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.
Huang
Ching-Shan
CS
Department of Medical Technology, Foo-Yin University, Kaohsiung, Taiwan.
Tan
Nancy
N
Yang
Sien-Sing
SS
Sung
Yung-Chan
YC
Huang
May-Jen
MJ
D000328:Adult; D001663:Bilirubin / Q000097:blood; D002648:Child; D003414:Crigler-Najjar Syndrome / Q000097:blood / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D014453:Glucuronosyltransferase / Q000235:genetics; D006801:Humans; D009154:Mutation; D013624:Taiwan; D000099148:UGT1A1 Enzyme
D001663:Bilirubin; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme