A Homozygous Mutation in UGT1A1 Exon 5 May Be Responsible for Persistent Hyperbilirubinemia in a Japanese Girl with Gilbert's Syndrome

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概要

• 論文の詳細を見る

• The UGT1A1 gene encodes a responsible enzyme, UDP-glucuronosyltransferase1A1,for bilirubin metabolism. Many mutations have already been identified in patients withinherited disorders with hyperbilirubinemia, Crigler-Najjar syndrome and Gilbert'ssyndrome. In this study, we identified a UGT1A1 mutation in an 8-year-old Japanesegirl with persistent hyperbilirubinemia who was clinically diagnosed as havingGilbert's syndrome. For the mutational analysis of UGT1A1, we performed a fullsequence analysis of the gene using the patient's DNA. She was homozygous for a T toG transversion at nucleotide position 1456 in UGT1A1 exon 5 (c.1456T>G), leading tothe substitution of aspartate for tyrosine at position 486 of the UGT1A1 protein(p.Y486D). In conclusion, the homozygous mutation of UGT1A1 may be responsible forpersistent hyperbilirubinemia in this patient.

• 神戸大学の論文
• 2011-00-00

著者

• NAKAGAWA TAKU

  Department of Surgery, Division of Thoracic Surgery, Akita University School of Medicine

• Takeshima Yasuhiro

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Matsuo Masafumi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Morioka Ichiro

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Morikawa Satoru

  Department Of Applied Chemistry And Biotechnology Faculty Of Engineering Fukui University

• Surini Yusoff

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Morioka Ichiro

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Indra Sari

  Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University

• Ono Eiichi

  Department Of Agricultural And Biosystems Engineering The University Of Arizona

• NISHIO Hisahide

  Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine

• Ono Eiichi

  Department of Pediatrics, Sanda City Hospital

• Mure Takeo

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Nishio Hisahide

  Department of Pediatrics, Kobe University Graduate School of Medicine

• MATSUO Masafumi

  Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University

• Morikawa Satoru

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Nakagawa Taku

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Surini Yusoff

  Department of Epidemiology, Kobe University Graduate School of Medicine

• Indra Sari

  Department of Epidemiology, Kobe University Graduate School of Medicine

• Takeshima Yasuhiro

  Department of Hematology and Oncology, Hyogo Children's Hospital

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