{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T23:04:11Z","timestamp":1775084651349,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T00:00:00Z","timestamp":1736985600000},"content-version":"vor","delay-in-days":15,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2025,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Sengers syndrome is an autosomal recessive mitochondrial DNA depletion syndrome characterized by hypertrophic cardiomyopathy, congenital cataracts, skeletal myopathy, exercise intolerance, and lactic acidosis. Dysfunction of acylglycerol kinase (<jats:italic>AGK<\/jats:italic>) is responsible for the disease, and several <jats:italic>AGK<\/jats:italic> gene variants have been reported.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We employed a comprehensive genomic analysis approach, including whole\u2010genome sequencing and RNA sequencing, combined with various bioinformatics tools.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Our analysis successfully diagnosed Sengers syndrome in a patient by detecting a known pathogenic variant and a previously unreported large deletion involving the <jats:italic>AGK<\/jats:italic> gene in a segmental duplication.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study demonstrates the effectiveness of combining multiple genomic analysis approaches for the accurate diagnosis of Sengers syndrome, particularly in cases involving complex genetic variations such as large deletions in segmental duplications.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.70048","type":"journal-article","created":{"date-parts":[[2025,1,16]],"date-time":"2025-01-16T11:41:10Z","timestamp":1737027670000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Successful Diagnosis of Sengers Syndrome Using a Comprehensive Genomic Analysis"],"prefix":"10.1002","volume":"13","author":[{"given":"Kohta","family":"Nakamura","sequence":"first","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3137-6919","authenticated-orcid":false,"given":"Yukiko","family":"Yatsuka","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sachie","family":"Naito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Funabashi Central Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Laboratory for Large\u2010Scale Biomedical Data Technology RIKEN Center for Integrative Medical Sciences  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeya","family":"Kasukawa","sequence":"additional","affiliation":[{"name":"Laboratory for Large\u2010Scale Biomedical Data Technology RIKEN Center for Integrative Medical Sciences  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsushi","family":"Kondo","sequence":"additional","affiliation":[{"name":"Laboratory for Large\u2010Scale Biomedical Data Technology RIKEN Center for Integrative Medical Sciences  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihito","family":"Kishita","sequence":"additional","affiliation":[{"name":"Department of Life Science, Faculty of Science and Engineering Kindai University  Osaka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yohei","family":"Sugiyama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Faculty of Medicine Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takanori","family":"Onuki","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomohiro","family":"Ebihara","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Tsuruoka","sequence":"additional","affiliation":[{"name":"Department of Neonatology Chiba Children's Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takuya","family":"Fushimi","sequence":"additional","affiliation":[{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ohtake","sequence":"additional","affiliation":[{"name":"Department of Pediatrics &amp; Clinical Genomics Saitama Medical University  Saitama Japan"},{"name":"Center for Intractable Diseases Saitama Medical University Hospital  Saitama Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kei","family":"Murayama","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"},{"name":"Department of Metabolism Chiba Children's Hospital  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Atsuko","family":"Imai\u2010Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3241-5502","authenticated-orcid":false,"given":"Yasushi","family":"Okazaki","sequence":"additional","affiliation":[{"name":"Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine Juntendo University  Tokyo Japan"},{"name":"Laboratory for Comprehensive Genomic Analysis RIKEN Center for Integrative Medical Sciences  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,1,16]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.114876.110"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms222413484"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000033795.17156.00"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2018.10.025"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv710"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.medj.2020.06.004"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0119-3"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2016.85"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep12028"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23298"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0091-679X(06)80004-X"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-019-0054-x"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2014-15-6-r84"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.12.005"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-023-01156-y"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-020-20584-4"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80217-4"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2023.107626"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.07.004"}],"container-title":["Molecular Genetics &amp; Genomic Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mgg3.70048","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,24]],"date-time":"2025-01-24T08:35:28Z","timestamp":1737707728000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.70048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1002\/mgg3.70048"],"URL":"https:\/\/doi.org\/10.1002\/mgg3.70048","archive":["Portico"],"relation":{},"ISSN":["2324-9269","2324-9269"],"issn-type":[{"value":"2324-9269","type":"print"},{"value":"2324-9269","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2024-07-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-11-26","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-01-16","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e70048"}}