{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,27]],"date-time":"2026-02-27T02:41:17Z","timestamp":1772160077548,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T00:00:00Z","timestamp":1721952000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100012166","name":"National Key Research and Development Program of China","doi-asserted-by":"publisher","award":["2022YFC2703603"],"award-info":[{"award-number":["2022YFC2703603"]}],"id":[{"id":"10.13039\/501100012166","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Defects in the mitochondrial tRNA genes cause a group of highly clinically and genetically heterogeneous disorders, which poses a challenge for clinical identification and genetic diagnosis. Here, we present a pre\u2010school boy with a novel\n                    <jats:italic>MT\u2010TD<\/jats:italic>\n                    variant m.7560T&gt;C at the heteroplasmy level of 76.53% in blood, 93.34% in urine sediments, and absent in the healthy mother's blood and urine. Besides convulsions, brain magnetic resonance imaging abnormalities and high plasma lactate, the boy presented with the prominent extra\u2010neurologic phenotype including steroid\u2010resistant nephrotic syndrome associated with focal segmental glomerulosclerosis characterized by abnormal mitochondria in podocytes, cortical blindness, and pancreatitis. To our knowledge, this is the unique case with\n                    <jats:italic>MT\u2010TD<\/jats:italic>\n                    m.7560T&gt;C\u2010related multi\u2010organ impairments, which expands the phenotypic and mutational spectrum of primary mitochondrial diseases.\n                  <\/jats:p>","DOI":"10.1111\/cge.14594","type":"journal-article","created":{"date-parts":[[2024,7,26]],"date-time":"2024-07-26T05:40:01Z","timestamp":1721972401000},"page":"745-749","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A de novo novel variant in the\n                    <i>MT\u2010TD<\/i>\n                    gene is associated with prominent extra\u2010neurologic manifestations"],"prefix":"10.1111","volume":"106","author":[{"given":"Liuyu","family":"Sun","sequence":"first","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yali","family":"Ren","sequence":"additional","affiliation":[{"name":"Department of Electron Microscopy Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yinan","family":"Ma","sequence":"additional","affiliation":[{"name":"Experimental Center Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging Peking University First Hospital  Beijing People's Republic of China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ye","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Peking University First Hospital  Beijing People's Republic of 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