hrp0084p3-677 | Bone | ESPE2015

A Novel Homozygous Six Nucleotide Deletion in GLUT2 Gene in a Fanconi–Bickel Syndrome Family

Abbasi Farzaneh , Abbasi Rowshanak , Ghafouri-Fard Soudeh

Background: FanconiĀ–Bickel syndrome (FBS) is a rare autosomal recessive disorder characterised 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.Results: Here, we report an Iranian family with two affected siblings. The clinical fin...