analysis of the t354p mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis

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ID: 134199
2016
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Abstract
Background: Congenital hypothyroidism (CH) due to the thyroid dyshormonogenesis is more prevalent in Iran in comparison to other countries. Sodium iodide symporter (NIS) is one of the plasma membrane glycoproteins that is located on the basolateral side of thyroid follicular cells and mediates active I− trapping into these cells. Playing a prominent role in thyroid hormone synthesis, NIS gene mutations can be a cause of permanent CH with the etiology of dyshormonogenesis. The aim of this study was to investigate the occurrence of T354P mutation of the NIS gene, in a group of children affected with permanent CH in Isfahan. Materials and Methods: Thirty-five patients with the etiology of dyshormonogenesis, and 35 healthy children, collected between 2002 and 2011 in Isfahan Endocrine and Metabolism Research Center, were examined for T354P mutation of the NIS gene by direct polymerase chain reaction-sequencing method. Results: No T354P mutation was detected in any of the studied children. Conclusions: More subjects with confirmed iodide transport defects should be screened for detecting the frequency of different reported NIS gene mutations in our population.
Reference Key
miranzadeh-mahabadi2016advancedanalysis Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Hajar Miranzadeh-Mahabadi;Modjtaba Emadi-Baygi;Parvaneh Nikpour;Neda Mostofizade;Silva Hovsepian;Mahin Hashemipour
Journal microbiological research
Year 2016
DOI
10.4103/2277-9175.180642
URL
http://www.advbiores.net/article.asp?issn=2277-9175;year=2016;volume=5;issue=1;spage=73;epage=73;aulast=Miranzadeh-Mahabadi
Keywords
mutation

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