Role of a homozygous A(TA)₇TAA promoter polymorphism and an exon 1 heterozygous frameshift mutation UGT1A1 in Crigler-Najjar syndrome type II in a Thai neonate

Genet Mol Res. 2013 Sep 4;12(3):3391-7. doi: 10.4238/2013.September.4.5.

Abstract

Crigler-Najjar syndrome is a rare autosomal recessive disease caused by mutations in the UGT1A1 gene. These mutations result in the deficiency of UGT1A1, a hepatic enzyme essential for bilirubin conjugation. This report describes the case of a 4-month-old boy with the cardinal symptoms of Crigler-Najjar syndrome type II. Molecular genetic analysis showed a homozygous UGT1A1 promoter mutation [A(TA)7TAA] and a heterozygous insertion of 1 adenosine nucleotide between positions 353 and 354 in exon 1 of UGT1A1 that caused a frameshift with a premature stop codon.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Bilirubin / genetics*
  • Bilirubin / metabolism
  • Codon, Nonsense / genetics
  • Crigler-Najjar Syndrome / genetics*
  • Crigler-Najjar Syndrome / pathology
  • Exons
  • Frameshift Mutation
  • Glucuronosyltransferase / genetics*
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Polymorphism, Single Nucleotide
  • Promoter Regions, Genetic*

Substances

  • Codon, Nonsense
  • UGT1A1 enzyme
  • Glucuronosyltransferase
  • Bilirubin

Supplementary concepts

  • Crigler Najjar syndrome, type 2