Glucose transporter 2(GLUT2), a transmembrane carrier protein that facilitates glucose movement across cell membranes, is an essential protein in carbohydrate metabolism. Mutation of SCL2A2 gene, which encodes this transporter, leads to a rare well- defined entity called glycogen storage disease type XI (GSD XI) also known as Fanconi Bickel syndrome. The result of this defect is hepatomegaly, proximal tubular dysfunction, fasting hypoglycemia, glucose intolerance, failure to thrive and rickets. In this report, we describe a 4 year old Iranian boy who presented dramatic exacerbation of these conditions as noted. Since this syndrome is caused by mutations to the SLC2A2 gene and is inherited in an autosomal recessive mode, Informed consent for genetic analysis was obtained from the patient. Genomic DNA was extracted from peripheral blood samples of the patient and was used for PCR direct sequencing analysis of all of the coding regions and of the exon/intron boundaries of the SLC2A2 gene. This analysis showed in frame deletion of 3 bp in exon 3 (c.115_117delATA: p.Ile39del). In order to give accurate genetic counselling, cosegregation analysis of this variant in all the family members and Sanger sequencing in 100 ethnicity- matched control subjects were performed. The result revealed that this variant more likely to be pathogenic. As we know this Single Nucleotide Polymorphism (SNP) has been reported with no clinical significance in database and literature.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology