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

TitleSevere hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: First case ever reported in Mainland China
Authors
KeywordsBilirubin-UDP-glucuronosyltransferase gene
Chinese girl
Homozygous nonsense mutation
Issue Date2005
PublisherBlackwell Publishing Asia. The Journal's web site is located at http://www.blackwellpublishing.com/journals/JPC
Citation
Journal Of Paediatrics And Child Health, 2005, v. 41 n. 5-6, p. 300-302 How to Cite?
AbstractJaundice is common in ethnic Chinese infants, but to our knowledge Crigler-Najjar syndrome (CN syndrome) type has never been reported in China. A Chinese girl with severe jaundice was recently diagnosed to have CN syndrome type 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 μmol/L and a peak of 701 μmol/L. Daily phototherapy for 15 h was required to keep the bilirubin levels within 280-320 μmol/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.
Persistent Identifierhttp://hdl.handle.net/10722/79887
ISSN
2015 Impact Factor: 1.477
2015 SCImago Journal Rankings: 0.692
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorNong, SHen_HK
dc.contributor.authorXie, YMen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorCheung, PTen_HK
dc.date.accessioned2010-09-06T07:59:52Z-
dc.date.available2010-09-06T07:59:52Z-
dc.date.issued2005en_HK
dc.identifier.citationJournal Of Paediatrics And Child Health, 2005, v. 41 n. 5-6, p. 300-302en_HK
dc.identifier.issn1034-4810en_HK
dc.identifier.urihttp://hdl.handle.net/10722/79887-
dc.description.abstractJaundice is common in ethnic Chinese infants, but to our knowledge Crigler-Najjar syndrome (CN syndrome) type has never been reported in China. A Chinese girl with severe jaundice was recently diagnosed to have CN syndrome type 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 μmol/L and a peak of 701 μmol/L. Daily phototherapy for 15 h was required to keep the bilirubin levels within 280-320 μmol/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.en_HK
dc.languageengen_HK
dc.publisherBlackwell Publishing Asia. The Journal's web site is located at http://www.blackwellpublishing.com/journals/JPCen_HK
dc.relation.ispartofJournal of Paediatrics and Child Healthen_HK
dc.subjectBilirubin-UDP-glucuronosyltransferase geneen_HK
dc.subjectChinese girlen_HK
dc.subjectHomozygous nonsense mutationen_HK
dc.titleSevere hyperbilirubinaemia in a Chinese girl with type I Crigler-Najjar syndrome: First case ever reported in Mainland Chinaen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=1034-4810&volume=41&spage=300&epage=302&date=2005&atitle=Severe+hyperbilirubinaemia+in+a+Chinese+girl+with+type+I+Crigler-Najjar+syndrome:+First+case+ever+reported+in+Mainland+Chinaen_HK
dc.identifier.emailCheung, PT:ptcheung@hkucc.hku.hken_HK
dc.identifier.authorityCheung, PT=rp00351en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1111/j.1440-1754.2005.00616.xen_HK
dc.identifier.pmid15953334-
dc.identifier.scopuseid_2-s2.0-22244478601en_HK
dc.identifier.hkuros127705en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-22244478601&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume41en_HK
dc.identifier.issue5-6en_HK
dc.identifier.spage300en_HK
dc.identifier.epage302en_HK
dc.identifier.isiWOS:000229517400016-
dc.publisher.placeAustraliaen_HK
dc.identifier.scopusauthoridNong, SH=6602283154en_HK
dc.identifier.scopusauthoridXie, YM=34769392000en_HK
dc.identifier.scopusauthoridChan, KW=8587755300en_HK
dc.identifier.scopusauthoridCheung, PT=7202595465en_HK
dc.identifier.citeulike218006-

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