title: The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism.
abstract: BACKGROUND
  Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies in comparison with other countries, the high rate of parental consanguinity, and the role of NIS gene in permanent CH due to dyshormonogenesis, the aim of this study was to investigate the G395R mutation of the NIS gene in patients with permanent CH due to dyshormonogenesis
  
  
  METHODS
  In this case-control study, patients diagnosed with permanent CH due to dyshormonogenesis during CH screening program were selected. Venous blood sample was obtained to determine the G395R mutations of NIS gene using polymerase chain reaction (PCR) sequencing method.
  
  
  RESULTS
  In this study, 35 CH patients with permanent CH due to dyshormonogenesis and 35 neonates with normal screening results as a control group were studied. We did not find any changes of the mentioned mutation of NIS gene in the patients' group.
  
  
  CONCLUSIONS
  Considering the findings of the current study, it seems that further studies with larger sample size and with consideration of other gene mutations such as pendrin and thyroglobulin are needed for more accurate conclusion.
authors: Department of Pediatrics, School of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.
authors: Neda
authors: N
authors: Mostofizade
authors: Parvaneh
authors: P
authors: Nikpour
authors: Shaghayegh Haghjooy
authors: SH
authors: Javanmard
authors: Modjtaba
authors: M
authors: Emadi-Baygi
authors: Hajar
authors: H
authors: Miranzadeh-Mahabadi
authors: Silva
authors: S
authors: Hovsepian
authors: Mahin
authors: M
authors: Hashemipour
keywords: Congenital hypothyroidism; G395R; dyshormonogenesis; mutation; sodium/iodide symporter (NIS) gene