细胞学与组织学杂志

Novel Nonsense p.C522X Mutation in SLC5A2 Gene of a Turkish Family with Familial Renal Glucosuria: A Molecular Case Report

Abstract

Afig Berdeli, Sinem Nalbantoglu, Sevgi Mir, Fatma Mutlubas Ozsan, Sırrı F. Cam and Mustafa Solak

Background: Familial renal glucosuria (FRG) is a rare renal tubular disorder which has recently been shown to result from mutations in SLC5A2 gene, encoding the kidney-specific low-affinity/high-capacity Na+/glucose cotransporter protein, SGLT2. The vast majority of FRG cases were shown with the confirmation of SLC5A2 mutations with larger numbers of samples from various groups. Here we present a Turkish family of mild glucosuria, with nonsense p.C522X mutation in SLC5A2 gene. Methods: DNA Sequencing analysis was performed for all the affected probands and the unaffected individuals. Results: Except for the father, the children and the mother were found out to have p.C522X mutation in SLC5A2 gene together with the divergent clinical implications. Conclusions: Rather it was found to be a sample of recessive or dominant type of renal glucosuria, the case indicated here was suggested as a model for autosomal co-dominant trait with complete penetrance and variable expressivity.