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

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