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. Patients had severe goitrous hypothyroidism, which was evident in infancy and childhood. Two patients had cognitive deficits due to late diagnosis and treatment. Thus, mutations in DEHAL1 led to a deficiency in iodotyrosine deiodinase in these patients. Because infants with DEHAL1 defects may have normal thyroid function at birth, they may be missed by neonatal screening programs for congenital hypothyroidism.
Source Information
From the Erasmus Medical Center, Erasmus University, Rotterdam, the Netherlands (J.C.M., W.K., H.T., T.J.V.); Paris Descartes–INSERM Unité 845, Necker Enfants Malades Hospital (G.P., M.P.), and Groupe Hospitalier Pitié–Salpêtrière (A.L.) — all in Paris; Cancer Research UK Cell Structure Research Group, Dundee University (M.D.), and Tayside University Hospitals National Health Service Trust, Ninewells Hospital and Medical School (D.G.) — all in Dundee, United Kingdom; and Charité Hospital, Humboldt University, Berlin (A.G.).
Address reprint requests to Dr. Moreno at the Department of Internal Medicine, Room Ee 593, Erasmus Medical Center, Dr. Molewaterplein 50, 3015 GE Rotterdam, the Netherlands, or at j.morenonavarro{at}erasmusmc.nl.
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