title: A novel mutation of the GLUT2 gene in a Turkish patient with Fanconi-Bickel syndrome.
abstract: Fanconi-Bickel syndrome is a rare inherited disorder of carbohydrate metabolism. The disease is characterized by the association of a massive hepatomegaly due to glycogen accumulation, severe hypophosphatemic rickets and marked growth retardation due to proximal renal tubular dysfunction. Fanconi-Bickel syndrome is a single gene disease and is caused by defects in the facilitative glucose transporter 2 (GLUT2) gene (SLC2A2) on chromosome 3q26.1-26.3, which encodes for the glucose transporter protein 2 expressed in hepatocytes, pancreatic beta-cells, enterocytes, and renal tubular cells. Several mutations in a gene encoding a glucose transporter have been reported in patients with Fanconi-Bickel syndrome. Here we report a Turkish child who had a novel mutation that has not been described before and we discuss the knowledge regarding genetic mutations in this rare disease.
authors.affiliation: Department of Pediatrics, Ankara Training and Research Hospital, Ankara, Turkey.
authors.forename: Enver
authors.initials: E
authors.lastname: Simşek
authors.forename: Senay
authors.initials: S
authors.lastname: Savaş-Erdeve
authors.forename: Osamu
authors.initials: O
authors.lastname: Sakamoto
authors.forename: Tümay
authors.initials: T
authors.lastname: Doğanci
authors.forename: Yildiz
authors.initials: Y
authors.lastname: Dallar
mesh_terms: D002117:Calcitriol / Q000627:therapeutic use; D002675:Child, Preschool; D018389:Codon, Nonsense; D004035:Diet Therapy; D053098:Familial Hypophosphatemic Rickets / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005260:Female; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006008:Glycogen Storage Disease / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D016226:Phosphorus, Dietary / Q000627:therapeutic use; D013577:Syndrome; D014421:Turkey
chemical_list: D018389:Codon, Nonsense; D051273:Glucose Transporter Type 2; D016226:Phosphorus, Dietary; D002117:Calcitriol