title: Segregation of a novel homozygous 6 nucleotide deletion in GLUT2 gene in a Fanconi-Bickel syndrome family.
abstract: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, impaired utilization of glucose and galactose, rickets, and severe short stature. It has been shown to be caused by mutations in GLUT2 gene, a member of the facilitative glucose transporter family. Here, we report an Iranian family with 2 affected siblings. The clinical findings in the patients include developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets. A novel 6 nucleotide deletion (c.1061_1066del6, p.V355_S356del2) is shown to be segregated with the disease in this family.
authors.affiliation: Growth and Development Research Center, Children Medical Hospital, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Farzaneh
authors.initials: F
authors.lastname: Abbasi
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
authors.forename: Faezeh
authors.initials: F
authors.lastname: Azizi
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran.
authors.forename: Mona
authors.initials: M
authors.lastname: Javaheri
authors.affiliation: Imam Hossein Medical Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
authors.forename: Asieh
authors.initials: A
authors.lastname: Mosallanejad
authors.affiliation: Biosensor Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran; Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Azadeh
authors.initials: A
authors.lastname: Ebrahim-Habibi
authors.affiliation: Department of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran. Electronic address: ghafourifard@razi.tums.ac.ir.
authors.forename: Soudeh
authors.initials: S
authors.lastname: Ghafouri-Fard
mesh_terms: D001483:Base Sequence; D002648:Child; D005198:Fanconi Syndrome / Q000235:genetics*; D005260:Female; D051273:Glucose Transporter Type 2 / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion
chemical_list: D051273:Glucose Transporter Type 2; C495680:SLC2A2 protein, human
keywords: Fanconi–Bickel syndrome; GLUT2; Novel mutation