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Type: Artigo de periódico
Title: Two Novel Mutations In The Thyroid Hormone Receptor β In Patients With Resistance To Thyroid Hormone (rth β): 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 β) is an inherited disorder characterized by variable tissue hyposensitivity to 3,5,30-l-triiodothyronine (T3), with persistent elevation of free-circulating T3 (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 β 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.
Editor: Georg Thieme Verlag
Rights: aberto
Identifier DOI: 10.1055/s-0035-1545305
Date Issue: 2015
Appears in Collections:Unicamp - Artigos e Outros Documentos

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