{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T05:32:09Z","timestamp":1766467929599,"version":"3.37.3"},"reference-count":10,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T00:00:00Z","timestamp":1717545600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T00:00:00Z","timestamp":1717545600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001691","name":"Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["JP23K15446"],"award-info":[{"award-number":["JP23K15446"]}],"id":[{"id":"10.13039\/501100001691","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"crossref","award":["JP24ek0109587 and JP24ek0109760","JP24ek0109587 and JP24ek0109760"],"award-info":[{"award-number":["JP24ek0109587 and JP24ek0109760","JP24ek0109587 and JP24ek0109760"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Grant from National Center for Child Health and Development","award":["2022B-5"],"award-info":[{"award-number":["2022B-5"]}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Clin Epigenet"],"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Silver\u2013Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese SRS cases with a de novo pathogenic frameshift variant of <jats:italic>HMGA2<\/jats:italic> (NM_003483.6:c.138_141delinsCT, p.(Lys46Asnfs*16)) and a de novo\u2009~\u20093.4\u00a0Mb microdeletion at 12q14.2\u2013q15 involving <jats:italic>HMGA2<\/jats:italic>, respectively. Furthermore, we compared clinical features in previously reported patients with various genetic conditions leading to compromised <jats:italic>IGF2<\/jats:italic> expression, <jats:italic>i.e.<\/jats:italic>, <jats:italic>HMGA2<\/jats:italic> aberrations, <jats:italic>PLAG1<\/jats:italic> aberrations, <jats:italic>IGF2<\/jats:italic> aberrations, and <jats:italic>H19<\/jats:italic>\/<jats:italic>IGF2<\/jats:italic>:IG-DMR epimutations (hypomethylations). The results provide further support for <jats:italic>HMGA2<\/jats:italic> being involved in the development of SRS and imply some characteristic features in patients with <jats:italic>HMGA2<\/jats:italic> aberrations.<\/jats:p>","DOI":"10.1186\/s13148-024-01688-w","type":"journal-article","created":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T18:04:03Z","timestamp":1717610643000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver\u2013Russell syndrome: case reports and literature review"],"prefix":"10.1186","volume":"16","author":[{"given":"Kaori","family":"Yamoto","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hirotomo","family":"Saitsu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yumiko","family":"Ohkubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masayo","family":"Kagami","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7178-9991","authenticated-orcid":false,"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,6,5]]},"reference":[{"issue":"2","key":"1688_CR1","doi-asserted-by":"publisher","first-page":"105","DOI":"10.1038\/nrendo.2016.138","volume":"13","author":"EL Wakeling","year":"2017","unstructured":"Wakeling EL, Brioude F, Lokulo-Sodipe O, O\u2019Connell SM, Salem J, Bliek J, et al. Diagnosis and management of Silver\u2013Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13(2):105\u201324.","journal-title":"Nat Rev Endocrinol"},{"issue":"2","key":"1688_CR2","doi-asserted-by":"publisher","first-page":"250","DOI":"10.1038\/gim.2017.105","volume":"20","author":"W Abi Habib","year":"2018","unstructured":"Abi Habib W, Brioude F, Edouard T, Bennett JT, Lienhardt-Roussie A, Tixier F, et al. Genetic disruption of the oncogenic HMGA2-PLAG1-IGF2 pathway causes fetal growth restriction. Genet Med. 2018;20(2):250\u20138.","journal-title":"Genet Med"},{"issue":"7","key":"1688_CR3","doi-asserted-by":"publisher","first-page":"1922","DOI":"10.1002\/ajmg.a.38253","volume":"173","author":"R Fischetto","year":"2017","unstructured":"Fischetto R, Palumbo O, Ortolani F, Palumbo P, Leone MP, Causio FA, et al. Clinical and molecular characterization of a second family with the 12q14 microdeletion syndrome and review of the literature. Am J Med Genet A. 2017;173(7):1922\u201330.","journal-title":"Am J Med Genet A"},{"issue":"8","key":"1688_CR4","doi-asserted-by":"publisher","first-page":"760","DOI":"10.1016\/j.placenta.2008.06.001","volume":"29","author":"M Kagami","year":"2008","unstructured":"Kagami M, Yamazawa K, Matsubara K, Matsuo N, Ogata T. Placentomegaly in paternal uniparental disomy for human chromosome 14. Placenta. 2008;29(8):760\u20131.","journal-title":"Placenta"},{"issue":"1","key":"1688_CR5","doi-asserted-by":"publisher","first-page":"86","DOI":"10.1186\/s13148-020-00865-x","volume":"12","author":"T Inoue","year":"2020","unstructured":"Inoue T, Nakamura A, Iwahashi-Odano M, Tanase-Nakao K, Matsubara K, Nishioka J, et al. Contribution of gene mutations to Silver\u2013Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients. 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Nat Genet. 2004;36(8):801\u20138.","journal-title":"Nat Genet"},{"issue":"5","key":"1688_CR8","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. 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. Genet Med. 2015;17(5):405\u201324.","journal-title":"Genet Med"},{"issue":"7","key":"1688_CR9","doi-asserted-by":"publisher","first-page":"dgaa273","DOI":"10.1210\/clinem\/dgaa273","volume":"105","author":"CT H\u00fcbner","year":"2020","unstructured":"H\u00fcbner CT, Meyer R, Kenawy A, Ambrozaityte L, Matuleviciene A, Kraft F, et al. HMGA2 variants in Silver-Russell Syndrome: homozygous and heterozygous occurrence. J Clin Endocrinol Metab. 2020;105(7):dgaa273.","journal-title":"J Clin Endocrinol Metab"},{"issue":"11","key":"1688_CR10","doi-asserted-by":"publisher","first-page":"1213","DOI":"10.1038\/ng1453","volume":"36","author":"J Hellemans","year":"2004","unstructured":"Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, et al. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet. 2004;36(11):1213\u20138.","journal-title":"Nat Genet"}],"container-title":["Clinical Epigenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13148-024-01688-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13148-024-01688-w\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13148-024-01688-w.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T18:04:12Z","timestamp":1717610652000},"score":1,"resource":{"primary":{"URL":"https:\/\/clinicalepigeneticsjournal.biomedcentral.com\/articles\/10.1186\/s13148-024-01688-w"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,6,5]]},"references-count":10,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["1688"],"URL":"https:\/\/doi.org\/10.1186\/s13148-024-01688-w","relation":{},"ISSN":["1868-7083"],"issn-type":[{"type":"electronic","value":"1868-7083"}],"subject":[],"published":{"date-parts":[[2024,6,5]]},"assertion":[{"value":"2 April 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"28 May 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"5 June 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":"This study was approved by the Institutional Review Board Committee of Hamamatsu University School of Medicine, and was performed after obtaining written informed consent from their parents.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not applicable.","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"}},{"value":"Signed informed consent obtained directly from the parents of cases 1 and 2.","order":5,"name":"Ethics","group":{"name":"EthicsHeading","label":"Informed patient consent for publication"}}],"article-number":"73"}}