title: Analysis of the T354P mutation of the sodium/iodide cotransporter gene in children with congenital hypothyroidism due to dyshormonogenesis.
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.
  
  
  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.
authors.affiliation: Department of Genetics, School of Basic Sciences, Shahrekord University, Shahrekord, Iran.
authors.forename: Hajar
authors.initials: H
authors.lastname: Miranzadeh-Mahabadi
authors.affiliation: Department of Genetics, School of Basic Sciences, Shahrekord University, Shahrekord, Iran; Institute of Biotechnology, School of Basic Sciences, Shahrekord University, Shahrekord, Iran.
authors.forename: Modjtaba
authors.initials: M
authors.lastname: Emadi-Baygi
authors.affiliation: Applied Physiology Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Parvaneh
authors.initials: P
authors.lastname: Nikpour
authors.affiliation: Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Neda
authors.initials: N
authors.lastname: Mostofizade
authors.affiliation: Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Silva
authors.initials: S
authors.lastname: Hovsepian
authors.affiliation: Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran; Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
authors.forename: Mahin
authors.initials: M
authors.lastname: Hashemipour
keywords: Congenital hypothyroidism; T354P; dyshormonogenesis; mutation; sodium iodide symporter gene