ESPE Abstracts (2015) 84 P-3-677

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

Farzaneh Abbasia, Rowshanak Abbasib & Soudeh Ghafouri-Fardc

aGrowth and Developmen, Tehran University of Medical Sciences, Research Center, Children Medical Hospital, Tehran, Iran; bEndocrinology and Metabolic Research Institute, Tehran University of Medical Sciences, Tehran, Iran; cDepartment of Medical Genetics, Shahid Beheshti University of Medical sciences, Tehran, Iran

Background: Fanconi–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 findings in the patientinclude developmental delay, failure to thrive, hepatomegaly, enlarged kidneys and rickets.

Conclusion: A novel six nucleotiddeletion (c.1061_1066del6, p.V355_S356del2) is shown to be segregated with the disease in this family.

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