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International Journal of Endocrinology and Metabolism
Research Institute for Endocrine Sciences
e-ISSN 1726-9148
p-ISSN 1726-913X
A Novel Mutation of SLC26A4 Gene In an Iranian Family with Pendred Syndrome
Authors
1Genetic Research Center, University of Social Walfare and Rehabilitation Sciences, Iran
2Molecular Otolaryngology Research Laboratories, Department of Otolaryngology, University of Iowa, IA, USA
3Genetic Research Center, University of Social Walfare and Rehabilitation Sciences, [email protected], Iran
*Corresponding Author: Genetic Research Center, University of Social Walfare and Rehabilitation Sciences, [email protected], Iran. Email: [email protected]
Published online:Apr 30, 2005
Article type:Research Article
Received:Jan 01, 2004
Accepted:Mar 01, 2005
How to Cite:Kahrizi K, Nishimura C, Naghavi A, Riazalhosseini Y, Smith R, et al. A Novel Mutation of SLC26A4 Gene In an Iranian Family with Pendred Syndrome. Int J Endocrinol Metab. 2005;3(2):. doi:
Abstract
In the diagnosis of Pendred syndrome, assessment of individuals by molecular analysis of the SLC26A4 gene is recommended. Here we report a novel mutation in the SLC26A4 gene as revealed by denaturing high performance liquid chromatography (DHPLC) and DNA sequencing of the entire coding region of the SLC26A4 gene in five members of an Iranian family affected with Pendred syndrome. This is the first report of the molecular investigation of Pendred syndrome in Iran and the first report of the R79X mutation.
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Copyright
© 2005, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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