Severe hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: first case ever reported in Mainland China

T) in exon 1. No mutation was found in exons 2-5. Her parents were heterozygous for the same mutant. The patient had an average bilirubin level of 300-500 mumol/L and a peak of 701 mumol/L. Daily phototherapy for 15 h was required to keep the bilirubin levels within 280-320 mumol/L. The unconjugated hyperbilirubinaemia apparently resulted from homozygous nonsense mutation of UGT1A1, which could completely abolish the UGT activity towards bilirubin (hepatic glucuronidation) and result in CN syndrome type I. Identification of the genetic defect is very useful for gene therapy, especially for DNA/RNA chimera therapy, and can be used as an antenatal screening test to identify the affected offsprings. -->

ISSN:	1034-4810
Přístupová URL adresa:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83dbe0fe8081a3951a630e2f6839c059 https://pubmed.ncbi.nlm.nih.gov/15953334
Rights:	CLOSED
Přírůstkové číslo:	edsair.doi.dedup.....83dbe0fe8081a3951a630e2f6839c059
Autor:	Yan-Ming Xie, Koon-Wing Chan, Shao-Han Nong, Pik-To Cheung
Rok vydání:	2005
Předmět:	medicine.medical_specialty China Bilirubin Crigler–Najjar syndrome media_common.quotation_subject Nonsense mutation Nonsense Glucuronidation Exon chemistry.chemical_compound Internal medicine medicine Humans Glucuronosyltransferase media_common Crigler-Najjar Syndrome Hyperbilirubinemia business.industry Homozygote Infant Exons Jaundice medicine.disease Stop codon Endocrinology chemistry Codon Nonsense Pediatrics Perinatology and Child Health Codon Terminator Female medicine.symptom business
Zdroj:	Journal of paediatrics and child health. 41(5-6)
ISSN:	1034-4810
Popis:	Jaundice is common in ethnic Chinese infants, but to our knowledge Crigler-Najjar syndrome (CN syndrome) type I has never been reported in China. A Chinese girl with severe jaundice was recently diagnosed to have CN syndrome type I by analyzing the bilirubin-uridinediphospho (UDP)-glucuronosyltransferase gene (UGT1A1). The patient was homozygous for a nonsense mutation that replaced glutamine (CAG, amino acid 239) with stop codon (TAG) at nucleotide number 715 (715C-->T) in exon 1. No mutation was found in exons 2-5. Her parents were heterozygous for the same mutant. The patient had an average bilirubin level of 300-500 mumol/L and a peak of 701 mumol/L. Daily phototherapy for 15 h was required to keep the bilirubin levels within 280-320 mumol/L. The unconjugated hyperbilirubinaemia apparently resulted from homozygous nonsense mutation of UGT1A1, which could completely abolish the UGT activity towards bilirubin (hepatic glucuronidation) and result in CN syndrome type I. Identification of the genetic defect is very useful for gene therapy, especially for DNA/RNA chimera therapy, and can be used as an antenatal screening test to identify the affected offsprings.
Databáze:	OpenAIRE
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