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Type: | Artigo |
Title: | Two novel mutations in the thyroid hormone receptor in patients with Resistance to Thyroid Hormone (RTH ): clinical, biochemical, and molecular data |
Author: | Esquiaveto-Aun, A. M. Zantut-Wittmann, D. E. Petroli, R. J. Nakano, B. S. L. Guerra-Junior, G. de Lemos-Marini, S. H. V. de Mello, M. P. |
Abstract: | The syndrome of resistance to thyroid hormone (RTH ) is an inherited disorder characterized by variable tissue hyposensitivity to 3,5,30-l-triiodothyronine (T-3), with persistent elevation of free-circulating T-3 (FT3) and free thyroxine (FT4) levels in association with nonsuppressed serum thyrotropin (TSH). Clinical presentation is variable and the molecular analysis of THRB gene provides a short cut diagnosis. Here, we describe 2 cases in which RTH was suspected on the basis of laboratory findings. The diagnosis was confirmed by direct THRB sequencing that revealed 2 novel mutations: the heterozygous p.Ala317Ser in subject 1 and the heterozygous p.Arg438Pro in subject 2. Both mutations were shown to be deleterious by SIFT, PolyPhen, and Align GV-GD predictive methods |
Subject: | Hormônios tireoidianos |
Country: | Alemanha |
Editor: | Georg Thieme Verlag |
Rights: | Fechado |
Identifier DOI: | 10.1055/s-0035-1545305 |
Address: | https://www.thieme-connect.de/products/ejournals/abstract/10.1055/s-0035-1545305 |
Date Issue: | 2015 |
Appears in Collections: | FCM - Artigos e Outros Documentos |
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