R434X Mutation in Dual Oxidase 2 Gene among Patients with Permanent and Transient Congenital Hypothyroidism

Document Type : Original Article (s)

Authors

1 Student of Medicine, School of Medicine AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran

2 MSc Student, Department of Clinical Biochemistry, School of Pharmacy AND Isfahan Pharmaceutical Sciences Research Center AND Student Research Committee, Isfahan University of Medical Sciences, Isfahan, Iran

3 Professor, Child Growth and Development Research Center AND Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

4 Associate Professor, Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

5 Assistant Professor, Department of Epidemiology and Biostatistics, School of Public Health, Isfahan University of Medical Sciences, Isfahan, Iran

6 Associate Professor, Department of Physiology, Isfahan University of Medical Sciences, Isfahan, Iran

7 Researcher, Child Growth and Development Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

8 Professor, Department of Internal Medicine, School of Medicine AND Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: The prevalence of congenital hypothyroidism (CH) is high in Isfahan (Iran). Considering the high rate of parental consanguinity and the role of dual oxidase 2 (DUOX2) gene in transient and permanent CH due to thyroid dyshormonogenesis, the aim of this research was to investigate the R434X mutation in DUOX2 gene in patients with transient and permanent CH due to dyshormonogenesis. Methods: In this descriptive prospective study, patients diagnosed with transient and permanent CH due to dyshormonogenesis (n = 25 and 33, respectively) during CH screening program were selected. Moreover, 30 children were included as the control group. Venous blood samples were obtained to determine the frequency of R434X mutation in DUOX2 gene using real time polymerase chain reaction based on high-resolution melting analysis by specific primers and sequencing method. Findings: We did not find any case of the mentioned R434X mutation in DUOX2 gene. Conclusion: Further studies using other methods and on other gene mutations such as pendrin, sodium iodide symporter (NIS) and thyroglobulin are required for more accurate results. Keywords: Congenital hypothyroidism, Dual oxidase 2 gene, Permanent, Transient
Journal of Isfahan Medical School
Volume 30, Issue 211 - Serial Number 211
September and October 2013
Pages 1745-1752

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History

  • Receive Date: 16 October 2012
  • Revise Date: 24 May 2024
  • Accept Date: 06 April 2022

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