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

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-Na...

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Published inGenetics and molecular research Vol. 12; no. 3; pp. 3391 - 3397
Main Authors Nilyanimit, P, Krasaelap, A, Foonoi, M, Chongsrisawat, V, Poovorawan, Y
Format Journal Article
LanguageEnglish
Published Brazil 01.01.2013
Subjects
Asian Continental Ancestry Group - 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
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Summary: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.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:1676-5680
1676-5680
DOI:10.4238/2013.September.4.5