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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
Date Issue: 2015
Appears in Collections:FCM - Artigos e Outros Documentos

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