Title of article
A Novel Mutation of SLC26A4 Gene In an Iranian Family with Pendred Syndrome
Author/Authors
Kahrizi, K. university of social welfare and rehabilitation sciences - Genetic Research Center, ايران , Nishimura, C. University of Iowa - Department of Otolaryngology, USA , Naghavi, A. university of social welfare and rehabilitation sciences - Genetic Research Center, USA , Riazalhosseini, Y. university of social welfare and rehabilitation sciences - Genetic Research Center, ايران , Smith, R. J. H. University of Iowa - Department of Otolaryngology, ايران , Najmabadi, H. university of social welfare and rehabilitation sciences - Genetic Research Center
From page
104
To page
108
Abstract
In the diagnosis of Pendred syndrome, I 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 (DHPLe) 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.
Keywords
Pendred syndrome , congenital deafness , SLC26A4 , R79X , mutation analysis , Iran
Journal title
International Journal of Endocrinology and Metabolism
Journal title
International Journal of Endocrinology and Metabolism
Record number
2661266
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