Article
Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
Lancet (London, England) - 1 Jan 2000
Friesema Edith C H, Grueters Annette, Biebermann Heike, Krude Heiko, von Moers Arpad, Reeser Maarten, Barrett Timothy G, Mancilla Edna E, Svensson Johan, Kester Monique H A, Kuiper George G J M, Balkassmi Sahila, Uitterlinden André G, Koehrle Josef, Rodien Patrice, Halestrap Andrew P, Visser Theo J
Abstract excerpt
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T3) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb...
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