Author/Authors :
Mostofizade، Neda نويسنده Department of Pediatrics, School of Medicine, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan , , Nikpour، Parvaneh نويسنده Division of Genetics, School of Medicine, Isfahan University of Medical Sciences, Isfahan , , Haghjooy Javanmard، Shaghayegh نويسنده Physiology Research Center , , Emadi Baygi، Modjtaba نويسنده , , Miranzadeh-Mahabadi، Hajar نويسنده Department of Genetics, School of Basic Sciences, Shahrekord University, Shahrekord , , Hovsepian، Silva نويسنده Department of Pediatrics, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan , , Hashemipour، Mahin نويسنده ,
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.
