{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T03:37:09Z","timestamp":1783568229834,"version":"3.55.0"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"11","license":[{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T00:00:00Z","timestamp":1621814400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"funder":[{"DOI":"10.13039\/501100001691","name":"MEXT | Japan Society for the Promotion of Science","doi-asserted-by":"publisher","award":["18K06356"],"award-info":[{"award-number":["18K06356"]}],"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":"publisher","award":["20ek0109373h0003"],"award-info":[{"award-number":["20ek0109373h0003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007449","name":"Takeda Science Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007449","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007786","name":"National Center for Child Health and Development","doi-asserted-by":"publisher","award":["2019A-1, 2019B-4"],"award-info":[{"award-number":["2019A-1, 2019B-4"]}],"id":[{"id":"10.13039\/100007786","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hum Genet"],"published-print":{"date-parts":[[2021,11]]},"DOI":"10.1038\/s10038-021-00937-7","type":"journal-article","created":{"date-parts":[[2021,5,24]],"date-time":"2021-05-24T08:03:01Z","timestamp":1621843381000},"page":"1121-1126","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2"],"prefix":"10.1038","volume":"66","author":[{"given":"Kaori","family":"Hara-Isono","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Matsubara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Riku","family":"Hamada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shun","family":"Shimada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomomi","family":"Yamaguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiko","family":"Wakui","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Osamu","family":"Miyazaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Muroya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-7748","authenticated-orcid":false,"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9971-4035","authenticated-orcid":false,"given":"Maki","family":"Fukami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7178-9991","authenticated-orcid":false,"given":"Tsutomu","family":"Ogata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8344-7507","authenticated-orcid":false,"given":"Tomoki","family":"Kosho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masayo","family":"Kagami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,5,24]]},"reference":[{"key":"937_CR1","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1136\/jmedgenet-2014-102979","volume":"52","author":"S Azzi","year":"2015","unstructured":"Azzi S, Salem J, Thibaud N, Chantot-Bastaraud S, Lieber E, Netchine I, et al. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome. J Med Genet. 2015;52:446\u201353.","journal-title":"J Med Genet"},{"key":"937_CR2","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-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105\u201324.","journal-title":"Nat Rev Endocrinol"},{"key":"937_CR3","doi-asserted-by":"publisher","first-page":"444","DOI":"10.1016\/j.tig.2016.05.001","volume":"32","author":"M Sanchez-Delgado","year":"2016","unstructured":"Sanchez-Delgado M, Riccio A, Eggermann T, Maher ER, Lapunzina P, Mackay D, et al. Causes and consequences of multi-locus imprinting disturbances in humans. Trends Genet. 2016;32:444\u201355.","journal-title":"Trends Genet"},{"key":"937_CR4","unstructured":"Morimoto M, Lewis DB, Lucke T, Boerkoel CF. Schimke immunoossseous dysplasia. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington; 1993\u20132020. https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1376\/."},{"key":"937_CR5","doi-asserted-by":"publisher","first-page":"117","DOI":"10.1080\/15592294.2016.1264561","volume":"13","author":"D Monk","year":"2018","unstructured":"Monk D, Morales J, den Dunnen JT, Russo S, Court F, Prawitt D, et al. Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. Epigenetics. 2018;13:117\u201321.","journal-title":"Epigenetics"},{"key":"937_CR6","doi-asserted-by":"publisher","first-page":"555","DOI":"10.1016\/j.ajhg.2016.06.032","volume":"99","author":"RS Joshi","year":"2016","unstructured":"Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, et al. DNA methylation profiling of uniparental disomy subjects provides a map of parental epigenetic bias in the human genome. Am J Hum Genet. 2016;99:555\u201366.","journal-title":"Am J Hum Genet"},{"key":"937_CR7","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;17:405\u201324.","journal-title":"Genet Med"},{"key":"937_CR8","doi-asserted-by":"publisher","first-page":"1842","DOI":"10.1002\/ajmg.a.32381","volume":"146","author":"S Kantarci","year":"2008","unstructured":"Kantarci S, Ragge NK, Thomas NS, Robinson DO, Noonan KM, Russell MK, et al. Donnai-Barrow syndrome (DBS\/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008;146:1842\u20137.","journal-title":"Am J Med Genet A"},{"key":"937_CR9","doi-asserted-by":"publisher","first-page":"552","DOI":"10.1111\/j.1399-0004.2009.01242.x","volume":"76","author":"MP L\u00f3pez-Garrido","year":"2009","unstructured":"L\u00f3pez-Garrido MP, Campos-Mollo E, Harto MA, Escribano J. Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2. Clin Genet. 2009;76:552\u20137.","journal-title":"Clin Genet"},{"key":"937_CR10","doi-asserted-by":"publisher","first-page":"1808","DOI":"10.1002\/ajmg.a.33462","volume":"152","author":"B Baskin","year":"2010","unstructured":"Baskin B, Geraghty M, Ray PN. Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Am J Med Genet A. 2010;152:1808\u201311.","journal-title":"Am J Med Genet A"},{"key":"937_CR11","doi-asserted-by":"publisher","first-page":"165","DOI":"10.3389\/fped.2020.00165","volume":"8","author":"H Deng","year":"2020","unstructured":"Deng H, Zhang Y, Yao Y, Xiao H, Su B, Xu K, et al. Interpretation of autosomal recessive kidney diseases with \u201cpresumed homozygous\u201d pathogenic variants should consider technical pitfalls. Front Pediatr. 2020;8:165.","journal-title":"Front Pediatr"},{"key":"937_CR12","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0292-4","volume":"17","author":"M Bak","year":"2016","unstructured":"Bak M, Boonen SE, Dahl C, Hahnemann JM, Mackay DJ, T\u00fcmer Z, et al. Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57. BMC Med Genet. 2016;17:29.","journal-title":"BMC Med Genet"},{"key":"937_CR13","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1136\/jmedgenet-2017-105190","volume":"55","author":"M Begemann","year":"2018","unstructured":"Begemann M, Rezwan FI, Beygo J, Docherty LE, Kolarova J, Schroeder C, et al. Maternal variants in NLRP and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring. J Med Genet. 2018;55:497\u2013504.","journal-title":"J Med Genet"},{"key":"937_CR14","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1093\/humupd\/dmz045","volume":"26","author":"M Elbracht","year":"2020","unstructured":"Elbracht M, Mackay D, Begemann M, Kagan KO, Eggermann T. Disturbed genomic imprinting and its relevance for human reproduction: causes and clinical consequences. Hum Reprod Update. 2020;26:197\u2013213.","journal-title":"Hum Reprod Update"},{"key":"937_CR15","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/j.clim.2015.10.005","volume":"161","author":"M Sanyal","year":"2015","unstructured":"Sanyal M, Morimoto M, Baradaran-Heravi A, Choi K, Kambham N, Jensen K, et al. Lack of IL7R\u03b1 expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD). Clin Immunol. 2015;161:355\u201365.","journal-title":"Clin Immunol"}],"container-title":["Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00937-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00937-7","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00937-7.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,10,26]],"date-time":"2021-10-26T08:23:10Z","timestamp":1635236590000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s10038-021-00937-7"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,5,24]]},"references-count":15,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2021,11]]}},"alternative-id":["937"],"URL":"https:\/\/doi.org\/10.1038\/s10038-021-00937-7","relation":{},"ISSN":["1434-5161","1435-232X"],"issn-type":[{"value":"1434-5161","type":"print"},{"value":"1435-232X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,5,24]]},"assertion":[{"value":"10 February 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2021","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"10 May 2021","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 May 2021","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare no competing interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}},{"value":"This study was approved by the Institutional Review Board Committee at the National Center for Child Health and Development (Committee\u2019s Reference Number: 518) and performed after obtaining written informed consent to participate in this study from the patients or the patients\u2019 parents.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}]}}