Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients.

ABSTRACT:

Introduction

Iodothyronine deiodinases are selenoproteins with the amino acid selenocysteine (Sec) introduced into the position of a TGA stop codon by a complex machinery involving tRNA^[Ser]Sec when a cis-acting Sec-insertion sequence element is present in the 3' end of the mRNA. Recently, a variant in the TRU-TCA1-1 gene encoding for tRNA^[Ser]Sec was reported, which resulted in reduced expression of stress-related selenoproteins. The proband presented with multisystem symptoms, euthyroid hyperthyroxinemia, and selenium deficiency. Here, we describe 2 new members of a family harboring the same tRNA^[Ser]Sec variant.

Case presentation

A 13-year-old patient was seen for Hashimoto's disease with high FT3 (4.6 pg/mL, normal range 2-4.2 pg/m

SUBMITTER: Geslot A 

PROVIDER: S-EPMC8647050 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature