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The G395r Mutation of the Sodium/Iodide Symporter (Nis) Gene in Patients With Dyshormonogenetic Congenital Hypothyroidism



Mostofizade N1 ; Nikpour P2, 3 ; Javanmard SH4 ; Emadibaygi M5, 6 ; Miranzadehmahabadi H5 ; Hovsepian S7 ; Hashemipour M8
Authors
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Authors Affiliations
  1. 1. Department of Pediatrics, School of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Division of Genetics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3. Pediatric Inherited Diseases Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4. Department of Physiology and Applied Physiology Research Center, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Department of Genetics, School of Basic Sciences, Shahrekord University, Shahrekord, Iran
  6. 6. Institute of Biotechnology, School of Basic Sciences, Shahrekord University, Shahrekord, Iran
  7. 7. Child Growth and Development Research Center, Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  8. 8. Department of Pediatric Endocrinology, Endocrine and Metabolism Research Center, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Source: International Journal of Preventive Medicine Published:2013

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. Conclusion: 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.
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