Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome

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• 作者：Motohiro Akagi ; Koji Inui ; Shigeo Nakajima ; Masaaki Shima ; Toshinori Nishigaki ; Takashi Muramatsu ; Chikara Kokubu ; Hiroko Tsukamoto ; Norio Sakai and Shintaro Okada
• 关键词：Key words Fanconi ; Bickel syndrome ; Glycogen storage disease type XI ; Glucose transporter 2 ; Nonsense mutation ; Japanese patient
• 刊名：Journal of Human Genetics
• 出版年：2000
• 出版时间：January 2000
• 年：2000
• 卷：45
• 期：1
• 页码：60-62
• 全文大小：54 KB
• 刊物类别：Biomedical and Life Sciences
• 刊物主题：Biomedicine
  Human Genetics
  Molecular Medicine
  Cancer Research
  Cell Biology
  Immunology
  Neurosciences
  
• 出版者：Springer Japan
• ISSN：1435-232X

文摘

Fanconi-Bickel syndrome (FBS), or glycogen storage disease type XI, is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Recently, this disease was elucidated to link mutations in the glucose transporter 2 (GLUT2) gene. Only three mutations in three FBS families have been reported. Therefore, it is important to elucidate mutations in the GLUT2 gene in FBS by answering the question of whether the syndrome is a single gene disease. In this report, we describe two patients in two unrelated families clinically diagnosed with FBS. No mutation in the entire protein coding region of the GLUT2 gene was detected in patient 1, which suggested that no mutation existed in the GLUT 2 gene, or that some mutations had affected the expression of the GLUT 2 gene. In patient 2, a novel homozygous nonsense mutation (W420X, Trp at codon 420 to stop codon) was detected. These results support the correlation between GLTU2 gene mutation and FBS syndrome. However, many patients must be analyzed to determine whether other genes are involved in FBS.