Mutation analysis of the GLUT2 gene in patients with fanconi-bickel syndrome

Osamu Sakamoto; Eishin Ogawa; Toshihiro Ohura; Yutaka Igarashi; Yoichi Matsubara; Kuniaki Narisawa; Kazuie Numa

doi:10.1203/00006450-200011000-00005

Mutation analysis of the GLUT2 gene in patients with fanconi-bickel syndrome

Osamu Sakamoto, Eishin Ogawa, Toshihiro Ohura, Yutaka Igarashi, Yoichi Matsubara, Kuniaki Narisawa, Kazuie Numa

MED - Medical Sciences

Research output: Contribution to journal › Article

43 Citations (Scopus)

Abstract

Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder manifesting hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS. We performed molecular analysis on three Japanese patients and found four novel mutations: a splice-site mutation (IVS2-2A>G), a nonsense mutation (Q287X), and two missense mutations (L389P and V423E). Heterozygotes of L389P or V423E mutation from the patients' families showed renal glucosuria. These data suggested that GLUT2 gene defects may be a cause of renal glucosuria.

Original language	English
Pages (from-to)	586-589
Number of pages	4
Journal	Pediatric Research
Volume	48
Issue number	5
DOIs	https://doi.org/10.1203/00006450-200011000-00005
Publication status	Published - 2000 Jan 1

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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Sakamoto, O., Ogawa, E., Ohura, T., Igarashi, Y., Matsubara, Y., Narisawa, K., & Numa, K. (2000). Mutation analysis of the GLUT2 gene in patients with fanconi-bickel syndrome. Pediatric Research, 48(5), 586-589. https://doi.org/10.1203/00006450-200011000-00005

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abstract = "Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder manifesting hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS. We performed molecular analysis on three Japanese patients and found four novel mutations: a splice-site mutation (IVS2-2A>G), a nonsense mutation (Q287X), and two missense mutations (L389P and V423E). Heterozygotes of L389P or V423E mutation from the patients' families showed renal glucosuria. These data suggested that GLUT2 gene defects may be a cause of renal glucosuria.",

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AU - Sakamoto, Osamu

AU - Ogawa, Eishin

AU - Ohura, Toshihiro

AU - Igarashi, Yutaka

AU - Matsubara, Yoichi

AU - Narisawa, Kuniaki

AU - Numa, Kazuie

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AB - Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder manifesting hepatorenal glycogen accumulation, Fanconi nephropathy, and impaired utilization of glucose and galactose. Several mutations in a gene encoding a glucose transporter, GLUT2, have recently been reported in patients with FBS. We performed molecular analysis on three Japanese patients and found four novel mutations: a splice-site mutation (IVS2-2A>G), a nonsense mutation (Q287X), and two missense mutations (L389P and V423E). Heterozygotes of L389P or V423E mutation from the patients' families showed renal glucosuria. These data suggested that GLUT2 gene defects may be a cause of renal glucosuria.

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