The Mutation of Dual Oxidase 2 (DUOX2) Gene among Patients with Permanent and Transient Congenital Hypothyroidism

Document Type : Original Article(s)

Authors

1 Resident of Pediatrics Endocrinology, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

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

3 Professor, Endocrine and Metabolism Research Center, Child Health Promotion Research Center, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

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

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

6 Assistant Professor, Applied Physiology Research Center and Department of Physiology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

7 Professor, Department of Pediatrics, Child Health Promotion Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

8 Assistant Professor, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.

9 General Practitioner, Research Assistant, Child Health Promotion Research Center, Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

10 Professor, Endocrine and Metabolism Research Center, Isfahan University of Medical Sciences, Isfahan, Iran.

Abstract

Background: Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan and its different etiologies comparing with other countries, the high rate of parental consanguinity and the role of DUOX2 gene in transient CH and permanent CH due to dyshormonogenesis, the aim of this research was to investigate the mutations of DUOX2 gene in patients with transient or permanent CH due to dyshormonogenesis.Methods: In this descriptive prospective study, patients diagnosed with transient CH and permanent CH due to dyshormonogenesis during CH screening program, were selected. Venous blood sample was obtained to determine the 3 mutations Q36H, R376W, D506N of DUOX2 gene using PCR method by specific primers and complementary methods such as Restriction fragment length polymorphism (RFLP) and Single-strand conformation polymorphism (SSCP).Finding: In this study 25 and 33 CH patients with transient CH and permanent CH due to dyshormonogenesis were studied respectively. 30 children studied as control group. We did not find any mutation of the mentioned three mutations of DUOX2 gene.  Conclusion: Considering the findings of current study, it seems that further studies with other methods and also with considering other gene mutations such as pendrin, NIS and thyroglobulin is needed for more accurate conclusion. 

Keywords

References

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Journal of Isfahan Medical School
Volume 29, Issue 139 - Serial Number 139
March and April 2011
Pages 588-595

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History

  • Receive Date: 15 June 2011
  • Revise Date: 01 November 2024
  • Accept Date: 06 April 2022

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