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-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.
Center of Excellence in Clinical Virology, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.
P
P
Nilyanimit
A
A
Krasaelap
M
M
Foonoi
V
V
Chongsrisawat
Y
Y
Poovorawan
D044466:Asian People / Q000235:genetics; D001663:Bilirubin / Q000235:genetics* / Q000378:metabolism; D018389:Codon, Nonsense / Q000235:genetics; D003414:Crigler-Najjar Syndrome / Q000235:genetics* / Q000473:pathology; D005091:Exons; D016368:Frameshift Mutation; D014453:Glucuronosyltransferase / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D000099148:UGT1A1 Enzyme
D001663:Bilirubin; D018389:Codon, Nonsense; D014453:Glucuronosyltransferase; D000099148:UGT1A1 Enzyme