Understanding the Role of GLUT2 in Dysglycemia Associated with Fanconi-Bickel Syndrome.

ABSTRACT: Fanconi-Bickel Syndrome (FBS) is a rare disorder of carbohydrate metabolism that is characterized by the accumulation of glycogen mainly in the liver. It is inherited in an autosomal recessive manner due to mutations in the SLC2A2 gene. SLC2A2 encodes for the glucose transporter GLUT2 and is expressed in tissues that are involved in glucose homeostasis. The molecular mechanisms of dysglycemia in FBS are still not clearly understood. In this study, we report two cases of FBS with classical phenotypes of FBS associated with dysglycemia. Genomic DNA was extracted and analyzed by whole-genome and Sanger sequencing, and patient PBMCs were used for molecular analysis. One patient had an exonic SLC2A2 mutation (c.1093C>T in exon 9, R365X), while the other patient had a nov

SUBMITTER: Sharari S 

PROVIDER: S-EPMC9495670 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature