{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:52:09Z","timestamp":1789667529603,"version":"4.0.1"},"reference-count":12,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T00:00:00Z","timestamp":1712016000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T00:00:00Z","timestamp":1712016000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Pediatr"],"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Background<\/jats:title>\n                <jats:p>Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK syndrome) is a severe multi-systemic developmental disorder, caused by variants in the <jats:italic>SON<\/jats:italic> gene. A patient diagnosed with ZTTK syndrome who carried a de novo <jats:italic>SON<\/jats:italic> mutation and exhibited recurrent myocardial injury was described in this case.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Case presentation<\/jats:title>\n                <jats:p>A 7-year-old girl was admitted to the Cardiology Department of Beijing Children\u2019s Hospital in November 2019 due to myocardial injury following respiratory infection. She displayed elevated myocardial enzymes and severe T-wave changes on electrocardiogram. Over the past three years, she had experienced myocardial injury on three occasions. Additionally, she exhibited intellectual disability, congenital amblyopia, and dysmorphic facial features. Genetic analysis revealed a de novo heterozygous mutation c.3852_3856delGGTAT in the <jats:italic>SON<\/jats:italic> gene, which was confirmed by Sanger sequencing of her parents. She received anti-infection treatment and was administered metoprolol orally. Her condition was stable at the time of discharge. Over a 42-month follow-up period at the outpatient clinic, she complained intermittent fatigue and palpitation.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>The identified <jats:italic>SON<\/jats:italic> mutation, which plays a crucial role in heart development and mitochondrial function, may be associated with an increased susceptibility to myocardial injury or cardiomyopathy. This case report contributes novel insights into this rare condition and suggests the expansion of the ZTTK syndrome phenotype.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1186\/s12887-024-04703-4","type":"journal-article","created":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T06:01:38Z","timestamp":1712037698000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report"],"prefix":"10.1186","volume":"24","author":[{"given":"Jia","family":"Na","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lang","family":"Cui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhen","family":"Zhen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xi","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qirui","family":"Li","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Gao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,4,2]]},"reference":[{"key":"4703_CR1","doi-asserted-by":"publisher","first-page":"e953","DOI":"10.1002\/mgg3.953","volume":"7","author":"Y Yang","year":"2019","unstructured":"Yang Y, Xu L, Yu Z, Huang H, Yang L. Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C\u2009>\u2009T. Mol Genet Genom Med. 2019;7:e953.","journal-title":"Mol Genet Genom Med"},{"key":"4703_CR2","doi-asserted-by":"publisher","first-page":"3740","DOI":"10.1002\/ajmg.a.62445","volume":"185","author":"ST Kushary","year":"2021","unstructured":"Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, et al. ZTTK syndrome: clinical and molecular findings of 15 cases and a review of the literature. Am J Med Genet Part A. 2021;185:3740\u201353.","journal-title":"Am J Med Genet Part A"},{"key":"4703_CR3","doi-asserted-by":"publisher","first-page":"2587","DOI":"10.1002\/ajmg.a.37761","volume":"170","author":"T Takenouchi","year":"2016","unstructured":"Takenouchi T, Miura K, Uehara T, Mizuno S, Kosaki K, Establishing SON. 21q22.11 as a cause a new syndromic form of intellectual disability: possible contribution to Braddock-Carey syndrome phenotype. Am J Med Genet Part A. 2016;170:2587\u201390.","journal-title":"Am J Med Genet Part A"},{"key":"4703_CR4","doi-asserted-by":"publisher","first-page":"517","DOI":"10.1111\/pde.14113","volume":"37","author":"L Quintana Castanedo","year":"2020","unstructured":"Quintana Castanedo L, S\u00e1nchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodr\u00edguez M, et al. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON. Pediatr Dermatol. 2020;37:517\u20139.","journal-title":"Pediatr Dermatol"},{"key":"4703_CR5","doi-asserted-by":"publisher","first-page":"711","DOI":"10.1016\/j.ajhg.2016.06.029","volume":"99","author":"JH Kim","year":"2016","unstructured":"Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, et al. De Novo mutations in SON disrupt RNA splicing of genes essential for Brain Development and Metabolism, causing an intellectual-disability syndrome. Am J Hum Genet. 2016;99:711\u20139.","journal-title":"Am J Hum Genet"},{"key":"4703_CR6","doi-asserted-by":"publisher","first-page":"720","DOI":"10.1016\/j.ajhg.2016.06.035","volume":"99","author":"MJ Tokita","year":"2016","unstructured":"Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, K\u00fcry S, et al. De Novo truncating variants in SON cause intellectual disability, Congenital Malformations, and failure to Thrive. Am J Hum Genet. 2016;99:720\u20137.","journal-title":"Am J Hum Genet"},{"key":"4703_CR7","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1038\/nature21062","volume":"542","author":"Prevalence","year":"2017","unstructured":"Prevalence. Architecture of de novo mutations in developmental disorders. Nature. 2017;542:433\u20138.","journal-title":"Nature"},{"key":"4703_CR8","doi-asserted-by":"publisher","first-page":"504","DOI":"10.1038\/ng.3789","volume":"49","author":"JA Kosmicki","year":"2017","unstructured":"Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, et al. Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017;49:504\u201310.","journal-title":"Nat Genet"},{"key":"4703_CR9","doi-asserted-by":"publisher","first-page":"1274","DOI":"10.1016\/j.ajhg.2019.11.003","volume":"105","author":"TN Turner","year":"2019","unstructured":"Turner TN, Wilfert AB, Bakken TE, Bernier RA, Pepper MR, Zhang Z, et al. Sex-based analysis of De Novo variants in Neurodevelopmental disorders. 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Clin Med. 2021;21:e505\u201310.","journal-title":"Clin Med"}],"container-title":["BMC Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04703-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12887-024-04703-4\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12887-024-04703-4.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,4,2]],"date-time":"2024-04-02T06:06:14Z","timestamp":1712037974000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcpediatr.biomedcentral.com\/articles\/10.1186\/s12887-024-04703-4"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,2]]},"references-count":12,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["4703"],"URL":"https:\/\/doi.org\/10.1186\/s12887-024-04703-4","relation":{},"ISSN":["1471-2431"],"issn-type":[{"value":"1471-2431","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,2]]},"assertion":[{"value":"25 July 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 March 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"2 April 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The study was conducted in accordance with the Declaration of Helsinki, and approved by the Ethics Committee of Beijing Children\u2019s Hospital affiliated to Capital Medical University No. [2023]-E-074-R. Written informed consent was provided by the patient\u2019s parents. All methods were performed in accordance with the relevant guidelines and regulations.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Written informed consent was obtained from the parent of the minor participant for publication of this Case report and any accompanying images. A copy of the written consent is available for review by the Editor of this journal.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"232"}}