Iodide Transport Defect: Functional Characterization of a Novel Mutation in the Na+/I− Symporter 5′-Untranslated Region in a Patient with Congenital Hypothyroidism

Iodide transport defect (ITD) is an autosomal recessive disorder caused by impaired Na+/I− symporter (NIS)-mediated active iodide accumulation into thyroid follicular cells. Clinical manifestations comprise a variable degree of congenital hypothyroidism and goiter, and low to absent radioiodide uptake, as determined by thyroid scintigraphy. Hereditary molecular defects in NIS have been shown to cause ITD. Our objective was to perform molecular...