Mutations in the thyroid oxidase 2 (THOX2) gene are associated with congenital hypothyroidism, according to a report in the July 11th edition of The New England Journal of Medicine.
THOX2 protein plays a key role in the thyroid gland’s generation of hydrogen peroxide, a critical step in the synthesis of thyroid hormones, the authors explain.
Dr. Jos C. Moreno and colleagues from the University of Amsterdam, The Netherlands analyzed nine patients with idiopathic congenital hypothyroidism (one with permanent and eight with transient hypothyroidism) and their relatives for mutations in their THOX1 and THOX2 genes.
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