{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:45:00Z","timestamp":1786117500503,"version":"build-2736575974"},"reference-count":22,"publisher":"Walter de Gruyter GmbH","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,24]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec id=\"j_jpem-2025-0578_abs_001\">\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>\n                      <jats:italic>NSUN3<\/jats:italic>\n                      encodes a mitochondrial RNA methyltransferase responsible for cytosine methylation at the tRNA wobble base, which plays a role in the regulation of mitochondrial translation. Variants in\n                      <jats:italic>NSUN3<\/jats:italic>\n                      lead to impaired oxidative phosphorylation resulting in multisystem involvement. Reported cases to date have described developmental delay, hypotonia, optic atrophy and neurological involvement. Cardiac manifestations, however, have not yet been clearly associated with\n                      <jats:italic>NSUN3<\/jats:italic>\n                      deficiency. Here, we report hypertrophic cardiomyopathy (HCM) as a new clinical feature and the long-term follow-up of our case, further expanding the phenotype of\n                      <jats:italic>NSUN3<\/jats:italic>\n                      -related disease.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0578_abs_002\">\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>An 18-year-old girl was referred for visual loss, progressive fatigue, muscle weakness and HCM. Initial symptoms started as hypotonia in infancy and proceeded with developmental delay, reduced visual acuity and chest pain. At the age 15\u00a0years, she was diagnosed with HCM. Cardiac magnetic resonance imaging showed concentric left ventricular (LV) hypertrophy with septal thickness measuring up to 20\u202fmm, LV ejection fraction was preserved (70\u202f%). Whole exome sequencing identified a homozygous likely pathogenic variant in the NSUN3 gene: NM_022072.5: c.465dup (p.Gly156ArgfsTer6), for which both parents were found to be heterozygous carriers.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec id=\"j_jpem-2025-0578_abs_003\">\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      To our knowledge, this is the first reported case of\n                      <jats:italic>NSUN3<\/jats:italic>\n                      -related mitochondrial disease with HCM. An increasing number of reported cases will likely contribute to a more comprehensive understanding of the clinical phenotype and genotype\u2013phenotype correlations.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1515\/jpem-2025-0578","type":"journal-article","created":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T06:56:01Z","timestamp":1771829761000},"page":"372-380","source":"Crossref","is-referenced-by-count":0,"title":["Hypertrophic cardiomyopathy as a novel phenotypic feature of\n                    <i>NSUN3<\/i>\n                    -related mitochondrial disease: a case report with review of the literature"],"prefix":"10.1515","volume":"39","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2037-7932","authenticated-orcid":false,"given":"Ay\u015fe","family":"\u015eenol Ersak","sequence":"first","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tu\u011f\u00e7e","family":"\u00c7a\u011f\u0131ran","sequence":"additional","affiliation":[{"name":"Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ay\u015fen","family":"Ko\u00e7yi\u011fit","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6800-8848","authenticated-orcid":false,"given":"K\u0131smet","family":"\u00c7\u0131k\u0131","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9076-1388","authenticated-orcid":false,"given":"Y\u0131lmaz","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1371-8399","authenticated-orcid":false,"given":"Ebru","family":"Aypar","sequence":"additional","affiliation":[{"name":"Division of Pediatric Cardiology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-5360-0219","authenticated-orcid":false,"given":"Serap","family":"Ketenci \u0130\u015flek","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7244-7766","authenticated-orcid":false,"given":"Pelin \u00d6zlem","family":"\u015eim\u015fek Kiper","sequence":"additional","affiliation":[{"name":"Division of Pediatric Genetics, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1813-275X","authenticated-orcid":false,"given":"G\u00f6knur","family":"Halilo\u011flu","sequence":"additional","affiliation":[{"name":"Division of Pediatric Neurology, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1104-9902","authenticated-orcid":false,"given":"Ali","family":"Dursun","sequence":"additional","affiliation":[{"name":"Division of Pediatric Metabolism and Nutrition, Department of Pediatrics , Hacettepe University Faculty of Medicine , Ankara , T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2026,2,24]]},"reference":[{"key":"2026080613594061973_j_jpem-2025-0578_ref_001","doi-asserted-by":"crossref","unstructured":"Van Haute, L, Pearce, SF, Powell, CA, D\u2019Souza, AR, Nicholls, TJ, Minczuk, M. 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