The Mutation of Dual Oxidase 2 (Duox2) Gene Among Patients With Permanent and Transient Congenital Hypothyroidism



Rostampour N¹ ; Tajaddini M² ; Hashemipour M³ ; Salehi M⁴ ; Feizi A⁵ ; Javanmard SH⁶ ; Kelishadi R⁷ ; Saneian H⁸ ; Hovsepian S⁹ ; Amini M¹⁰
Source: Journal of Isfahan Medical School Published:2011

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 dy-shormonogenesis. 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 Real-time PCR HRM method by specific primers and complementary molecular methods such as Sequencing. Findings: In this study 25 and 33 CH patients with transient CH and permanent CH due to dyshormo-nogenesis 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.