Digenic DUOX1 and DUOX2 Mutations in Cases With Congenital Hypothyroidism

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Aycan Z., Cangul H., Muzza M., Bas V. N., Fugazzola L., Chatterjee V. K., ...More

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, vol.102, no.9, pp.3085-3090, 2017 (SCI-Expanded) identifier identifier identifier


Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the thyroid peroxidase-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in dyshormonogenetic congenital hypothyroidism (CH) that may be phenotypically heterogeneous, leading to the hypothesis that CH severity may be influenced by environmental factors (e.g., dietary iodine) and oligogenic modifiers (e.g., variants in the homologous reduced form of NAD phosphate-oxidase DUOX1). However, loss-of-function mutations in DUOX1 have not hitherto been described, and its role in thyroid biology remains undefined.