The G395R Mutation of the Sodium/Iodide Symporter (NIS) Gene in Patients with Dyshormonogenetic Congenital Hypothyroidism

Background: considering the high prevalence of congenitalhypothyroidism (ch) in isfahan and its different etiologiesin comparison with other countries, the high rate of parentalconsanguinity, and the role of nis gene in permanent ch due todyshormonogenesis, the aim of this study was to investigate theg395r mutation of the nis gene in patients with permanent chdue to dyshormonogenesismethods: in this case–control study, patients diagnosed withpermanent ch due to dyshormonogenesis during ch screeningprogram were selected. venous blood sample was obtained todetermine the g395r mutations of nis gene using polymerasechain reaction (pcr) sequencing method.results: in this study, 35 ch patients with permanent ch due todyshormonogenesis and 35 neonates with normal screening resultsas a control group were studied. we did not find any changes ofthe mentioned mutation of nis gene in the patients’ group.conclusion: considering the findings of the current study, it seemsthat further studies with larger sample size and with considerationof other gene mutations such as pendrin and thyroglobulin areneeded for more accurate conclusion.