Mutations in the iodotyrosine deiodinase gene and hypothyroidism.

  title={Mutations in the iodotyrosine deiodinase gene and hypothyroidism.},
  author={Jose I. Moreno and Willem Klootwijk and Hans van Toor and Graziella Pinto and M D'alessandro and Aub{\`e}ne L{\`e}ger and David Goudie and Michel Polak and Annette Grueters and Theo J. Visser},
  journal={The New England journal of medicine},
  volume={358 17},
DEHAL1 has been identified as the gene encoding iodotyrosine deiodinase in the thyroid, where it controls the reuse of iodide for thyroid hormone synthesis. We screened patients with hypothyroidism who had features suggestive of an iodotyrosine deiodinase defect for mutations in DEHAL1. Two missense mutations and a deletion of three base pairs were identified in four patients from three unrelated families; all the patients had a dramatic reduction of in vitro activity of iodotyrosine deiodinase… CONTINUE READING


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Iodotyrosine dehalogenase 1 (DEHAL1) is a transmembrane protein involved in the recycling of iodide close to the thyroglobulin iodination site.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology • 2004

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