alexa Novel Nonsense p.C522X Mutation in SLC5A2 Gene of a Turkish Family with Familial Renal Glucosuria: A Molecular Case Report | OMICS International
ISSN: 2157-7099

Journal of Cytology & Histology
Open Access

Like us on:
OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations

700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

Case Report

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

Afig Berdeli1*, Sinem Nalbantoglu3, Sevgi Mir2, Fatma Mutlubas Ozsan2, Sirri F. Cam4 and Mustafa Solak5

1Ege University Faculty Of Medicine Department Of Pediatrics Child Hospital Molecular Medicine Laboratory , Bornova, Izmir, Turkey

2Ege University Faculty Of Medicine Department Of Pediatrics Division Of Pediatric Nephrology Bornova, Izmir , Turkey

3Ege University Faculty Of Medicine Department Of Pediatrics Molecular Medicine Laboratory Bornova, Izmir , Turkey

4Celal Bayar University Faculty Of Medicine Department Of Medical Genetics Manisa, Izmir , Turkey

5Afyon Karahisar University Faculty Of Medicine Department Of Medical Genetics Afyon, Turkey

*Corresponding Author:
Prof. Afig Berdeli, MD, PhD
Ege University Faculty Of Medicine Department Of Pediatrics
Child Hospital Molecular Medicine Laboratory Bornova
Izmir, Turkey
Tel: +095327776200
Fax: +902322537682
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.

Abstract

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.

Keywords

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version