Mutation analysis of two Japanese patients with Fanconi-Bickel syndrome |
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Authors: | Motohiro Akagi Koji Inui Shigeo Nakajima Masaaki Shima Toshinori Nishigaki Takashi Muramatsu Chikara Kokubu Hiroko Tsukamoto Norio Sakai Shintaro Okada |
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Affiliation: | (1) Department of Developmental Medicine (Pediatrics, D-5), Osaka University, Graduate School of Medical Science, 2-2 Yamadaoka, Suita, Osaka 565-0871, Japan Tel. +81-6-6879-3932; Fax +81-6-6879-3939 e-mail: koji@ped.med.osaka-u.ac.jp, JP |
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Abstract: | 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. Received: July 16, 1999 / Accepted: September 3, 1999 |
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Keywords: | Fanconi-Bickel syndrome Glycogen storage disease type XI Glucose transporter 2 Nonsense mutation Japanese patient |
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