{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T20:44:46Z","timestamp":1792097086389,"version":"4.4.0"},"reference-count":12,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T00:00:00Z","timestamp":1683244800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82171393"],"award-info":[{"award-number":["82171393"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004826","name":"Natural Science Foundation of Beijing Municipality","doi-asserted-by":"publisher","award":["7212116"],"award-info":[{"award-number":["7212116"]}],"id":[{"id":"10.13039\/501100004826","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2016YFC0901505"],"award-info":[{"award-number":["2016YFC0901505"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017415","name":"Peking University First Hospital Research Seed Fund","doi-asserted-by":"publisher","award":["2019SF06"],"award-info":[{"award-number":["2019SF06"]}],"id":[{"id":"10.13039\/100017415","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:p>\n                    The\n                    <jats:italic>TRNT1<\/jats:italic>\n                    gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs. The most common clinical phenotype associated with\n                    <jats:italic>TRNT1<\/jats:italic>\n                    is autosomal recessive sideroblastic anemia with B-cell immunodeficiency, periodic fever, and developmental delay (SIFD). Muscle involvement has rarely been reported in\n                    <jats:italic>TRNT1<\/jats:italic>\n                    -related disorders. Here we report a Chinese patient with incomplete SIFD and hyperCKemia, and explored the skeletal muscle pathological changes. The patient was a 3-year-old boy with sensorineural hearing loss, sideroblastic anemia, and developmental delay since infancy. At the age of 11 months, significantly increased levels of creatine kinase were noted, accompanied by mild muscle weakness. Whole-exome sequencing revealed compound heterozygous variants of the\n                    <jats:italic>TRNT1<\/jats:italic>\n                    gene, c.443C\u2009&amp;gt;\u2009T (p.Ala148Val) and c.692C\u2009&amp;gt;\u2009G (p.Ala231Gly), in the patient. Western blot showed a decreased expression of TRNT1 and cytochrome c oxidase subunit IV (COX IV) in the skeletal muscle of the patient. Electron microscopy observation of skeletal muscle pathology revealed abnormal mitochondria of various sizes and shapes, supporting a diagnosis of mitochondrial myopathy. The present case indicates that in addition to the classic SIFD phenotype,\n                    <jats:italic>TRNT1<\/jats:italic>\n                    mutations can cause mitochondrial myopathy, a rare clinical phenotype of\n                    <jats:italic>TRNT1<\/jats:italic>\n                    -related disorders.\n                  <\/jats:p>","DOI":"10.3389\/fped.2023.1160107","type":"journal-article","created":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T01:20:21Z","timestamp":1683249621000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":4,"title":["Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder"],"prefix":"10.3389","volume":"11","author":[{"given":"Cui-Jie","family":"Wei","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi-Dan","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan-Ling","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie-Yu","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xing-Zhi","family":"Chang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Hua","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-He","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,5,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1016\/j.bbagrm.2018.01.012","article-title":"A tRNA's Fate is decided at its 3\u2032 end: collaborative actions of CCA-adding enzyme and RNases involved in tRNA processing and degradation","volume":"1861","author":"Wellner","year":"2018","journal-title":"Biochim Biophys Acta Gene Regul Mech"},{"key":"B2","doi-asserted-by":"publisher","first-page":"586320","DOI":"10.3389\/fimmu.2021.586320","article-title":"Case report: expanding clinical, immunological and genetic findings in sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD) syndrome","volume":"12","author":"Mendonca","year":"2021","journal-title":"Front Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"2841","DOI":"10.1093\/hmg\/ddv044","article-title":"The 3\u2032 addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1","volume":"24","author":"Sasarman","year":"2015","journal-title":"Hum Mol Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s10875-022-01343-0","article-title":"Clinical and therapeutic aspects of sideroblastic anaemia with B-cell immunodeficiency, periodic fever and developmental delay (SIFD) syndrome: a systematic review","volume":"43","author":"Maccora","year":"2023","journal-title":"J Clin Immunol"},{"key":"B5","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1186\/s13023-016-0477-0","article-title":"TRNT1 Deficiency: clinical, biochemical and molecular genetic features","volume":"11","author":"Wedatilake","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"B6","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1406","DOI":"10.1212\/01.wnl.0000033795.17156.00","article-title":"Diagnostic criteria for respiratory chain disorders in adults and children","volume":"59","author":"Bernier","year":"2002","journal-title":"Neurology"},{"key":"B8","doi-asserted-by":"publisher","first-page":"3780","DOI":"10.3390\/ijms21113780","article-title":"Diseases associated with defects in tRNA CCA addition","volume":"21","author":"Slade","year":"2020","journal-title":"Int J Mol Sci"},{"key":"B9","doi-asserted-by":"publisher","first-page":"1049","DOI":"10.1001\/jamaophthalmol.2015.5833","article-title":"Expanding the phenotype of TRNT1-related immunodeficiency to include childhood cataract and inner retinal dysfunction","volume":"134","author":"Hull","year":"2016","journal-title":"JAMA Ophthalmol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"360","DOI":"10.1016\/j.jaci.2016.06.050","article-title":"Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood","volume":"139","author":"Frans","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"B11","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1016\/j.clim.2017.11.008","article-title":"Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay","volume":"188","author":"Lougaris","year":"2018","journal-title":"Clin Immunol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"612","DOI":"10.1136\/annrheumdis-2017-212401","article-title":"Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors","volume":"77","author":"Giannelou","year":"2018","journal-title":"Ann Rheum Dis"}],"container-title":["Frontiers in Pediatrics"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1160107\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,5]],"date-time":"2023-05-05T01:20:26Z","timestamp":1683249626000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fped.2023.1160107\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,5]]},"references-count":12,"alternative-id":["10.3389\/fped.2023.1160107"],"URL":"https:\/\/doi.org\/10.3389\/fped.2023.1160107","relation":{},"ISSN":["2296-2360"],"issn-type":[{"value":"2296-2360","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,5]]},"article-number":"1160107"}}