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 with inherited disorders with hyperbilirubinemia, Crigler-Najjar syndrome and Gilbert’s syndrome. In this study, we identified a UGT1A1 mutation in an 8-year-old Japanese girl with persistent hyperbilirubinemia who was clinically diagnosed as having Gilbert’s syndrome. For the mutational analysis of UGT1A1, we performed a full sequence analysis of the gene using the patient’s DNA. She was homozygous for a T to G transversion at nucleotide position 1456 in UGT1A1 exon 5 (c.1456T>G), leading to the substitution of aspartate for tyrosine at position 486 of the UGT1A1 protein (p.Y486D). In conclusion, the homozygous mutation of UGT1A1 may be responsible for persistent hyperbilirubinemia in this patient.
- 神戸大学医学部の論文
著者
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Maruo Takeshi
神戸大学 医学系研究科産科婦人科学
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Maruo T
Department Of Obstetrics And Gynecology Kobe University Graduate School Of Medicine
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Maruo T
Kobe Univ. Graduate School Of Medicine Kobe Jpn
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Nishio Hisahide
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
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Surini Yusoff
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
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Nishio H
Department Of Public Health Kobe University Graduate School Of Medicine
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Indra Sari
Department Of Genetic Epidemiology Graduate School Of Medicine Kobe University
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Maruo Takeshi
Department Of Obstetrics And Gynecology Kobe University
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Yamasaki Takemi
Hyogo Prefectural Children's Hospital
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Takeshima Y
Hyogo Prefectural Children's Hospital
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Morikawa Satoru
Department Of Epidemiology Kobe University Graduate School Of Medicine
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