Novel Nonsense p.C522X Mutation in SLC5A2 Gene of a Turkish Family with Familial Renal Glucosuria: A Molecular Case Report
- *Corresponding Author:
- Prof. Afig Berdeli, MD, PhD
Ege University Faculty Of Medicine Department Of Pediatrics
Child Hospital Molecular Medicine Laboratory Bornova
E-mail: [email protected]
Accepted date: November 16, 2010; Published date: November 19, 2010
Citation: Berdeli A, Nalbantoglu S, Mir S, Ozsan FM, Cam SF, et al. (2010) Novel Nonsense p.C522X Mutation in SLC5A2 Gene of a Turkish Family with Familial Renal Glucosuria: A Molecular Case Report. J Cytol Histol 1:104. doi: 10.4172/2157-7099.1000104
Copyright: © 2010 Berdeli A, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricteduse, distribution, and reproduction in any medium, provided the original author and source are credited.
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.