{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,23]],"date-time":"2026-07-23T01:39:30Z","timestamp":1784770770071,"version":"3.55.0"},"reference-count":24,"publisher":"Bioscientifica","issue":"6","license":[{"start":{"date-parts":[[2026,2,16]],"date-time":"2026-02-16T00:00:00Z","timestamp":1771200000000},"content-version":"vor","delay-in-days":1635,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":["journals.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,11,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>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&amp;lt;sup&amp;gt;[Ser]Sec&amp;lt;\/sup&amp;gt; when a cis-acting Sec-insertion sequence element is present in the 3\u2032 end of the mRNA. Recently, a variant in the TRU-TCA1-1 gene encoding for tRNA&amp;lt;sup&amp;gt;[Ser]Sec&amp;lt;\/sup&amp;gt; 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&amp;lt;sup&amp;gt;[Ser]Sec&amp;lt;\/sup&amp;gt; variant. Case Presentation: A 13-year-old patient was seen for Hashimoto\u2019s disease with high FT3 (4.6 pg\/mL, normal range 2\u20134.2 pg\/mL) and normal FT4 and TSH concentrations. He had no clinical complaints. During a 6-year clinical and hormonal follow-up, the index patient was not treated, FT3 decreased, FT4 increased, and serum TSH stayed in the normal range resulting in a euthyroid hyperthyroxinemia. Reverse T3 concentration was significantly increased at the last visit (19 years and 4 months). At the last evaluation, the total selenium level was low (91 \u03bcg\/L, normal range 95\u2013125). DNA sequencing identified a germinal homozygous variant (C65G) in the TRU-TCA1-1 gene. During follow-up, no additional clinical symptom was observed in the absence of any treatment. The same germinal tRNA&amp;lt;sup&amp;gt;[Ser]Sec&amp;lt;\/sup&amp;gt; variant was identified at heterozygous state in his father, who had normal thyroid function tests except a moderately increased reverse T3 concentration, with increased total selenium (143 \u03bcg\/L) level. In both patients, the expression of stress-related selenoprotein GPX3 was in the low-normal range (168 and 180 IU\/L, respectively, normal range: 150\u2013558 IU\/L). We did not find any significant biological abnormalities evocative of other selenoprotein deficiencies. Discussion\/Conclusion: We report on 2 members of a family with a variant in the TRU-TCA1-1 gene encoding for tRNA&amp;lt;sup&amp;gt;[Ser]Sec&amp;lt;\/sup&amp;gt;. Our study suggests that this tRNA&amp;lt;sup&amp;gt;[Ser]Sec&amp;lt;\/sup&amp;gt; variant is not exclusively causative of disruption in selenoprotein synthesis.<\/jats:p>","DOI":"10.1159\/000518275","type":"journal-article","created":{"date-parts":[[2021,8,26]],"date-time":"2021-08-26T17:00:54Z","timestamp":1629997254000},"page":"542-547","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-17","source":"Crossref","is-referenced-by-count":11,"title":["Inherited Selenocysteine Transfer RNA Mutation: Clinical and Hormonal Evaluation of 2 Patients"],"prefix":"10.1530","volume":"10","author":[{"given":"Aurore","family":"Geslot","sequence":"first","affiliation":[{"name":"1Department of Endocrinology and metabolic diseases, CHU Larrey, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fr\u00e9d\u00e9rique","family":"Savagner","sequence":"additional","affiliation":[{"name":"2Laboratory of Biochemistry, CHU Purpan, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5391-7582","authenticated-orcid":false,"given":"Philippe","family":"Caron","sequence":"additional","affiliation":[{"name":"1Department of Endocrinology and metabolic diseases, CHU Larrey, Toulouse, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"416","published-online":{"date-parts":[[2021,8,26]]},"reference":[{"issue":"2","key":"2026070711523175100_ref1","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1042\/bst0240384","article-title":"Regulation of selenoprotein gene expression and thyroid hormone metabolism","volume":"24","author":"Arthur","year":"1996","journal-title":"Biochem Soc Trans"},{"issue":"2","key":"2026070711523175100_ref2","doi-asserted-by":"crossref","first-page":"155","DOI":"10.1111\/cen.12066","article-title":"Selenium and the thyroid gland: more good news for 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