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

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51 Citations (Scopus)


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 languageEnglish
Pages (from-to)586-589
Number of pages4
JournalPediatric Research
Issue number5
Publication statusPublished - 2000
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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