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.

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.

• Authors: P Nilyanimit, A Krasaelap, M Foonoi, V Chongsrisawat, Y Poovorawan
• Journal: Genetics and molecular research : GMR (Genet Mol Res) Vol. 12 Issue 3 Pg. 3391-7 (Sep 04 2013) ISSN: 1676-5680 [Electronic] Brazil
• PMID: 24065680 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Codon, Nonsense
• UGT1A1 enzyme
• Glucuronosyltransferase
• Bilirubin

Topics

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