Journal of Cytology & Histology

Sırrı F. Cam

Publications

• Case Report
  Novel Nonsense p.C522X Mutation in SLC5A2 Gene of a Turkish Family with Familial Renal Glucosuria: A Molecular Case Report
  Author(s): Afig Berdeli, Sinem Nalbantoglu, Sevgi Mir, Fatma Mutlubas Ozsan, Sırrı F. Cam and Mustafa SolakAfig 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 suggest.. Read More»
  DOI: 10.4172/2157-7099.1000104

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