{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T08:02:41Z","timestamp":1779782561171,"version":"3.53.1"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T00:00:00Z","timestamp":1769990400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["24ek0109760h0002"],"award-info":[{"award-number":["24ek0109760h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2026,6]]},"abstract":"ABSTRACT<\/jats:title>\n \n DeSanto\u2013Shinawi syndrome is a rare genetic disorder caused by pathogenic variants or deletions involving the\n WAC<\/jats:italic>\n gene, located on chromosome 10p12.1, and is characterized by developmental delay, intellectual disability, and distinctive dysmorphic features. In addition to deletions encompassing\n WAC<\/jats:italic>\n , several proximal deletions on chromosome 10 that exclude\n WAC<\/jats:italic>\n have also been reported. Here, we describe a patient with a microdeletion of chromosome 10p11.23\u2013p11.21 spanning approximately 4.2\u2009Mb. The patient exhibited intellectual disability, agenesis of the corpus callosum, and congenital heart disease. The deleted region includes the following protein\u2010coding genes:\n ZNF438<\/jats:italic>\n ,\n ZEB1<\/jats:italic>\n ,\n ARHGAP12<\/jats:italic>\n ,\n KIF5B<\/jats:italic>\n ,\n EPC1<\/jats:italic>\n ,\n CCDC7<\/jats:italic>\n ,\n ITGB1<\/jats:italic>\n ,\n NRP1<\/jats:italic>\n , and\n PARD3<\/jats:italic>\n , while\n WAC<\/jats:italic>\n was preserved. Pathogenic variants or deletions of\n ZEB1<\/jats:italic>\n are known to cause corneal abnormalities and agenesis of the corpus callosum, whereas loss of NRP1 has been implicated in the pathogenesis of congenital heart disease. We therefore hypothesize that haploinsufficiency of multiple genes within the deleted region\u2014particularly\n ZEB1<\/jats:italic>\n ,\n EPC1<\/jats:italic>\n ,\n KIF5B<\/jats:italic>\n , and\n NRP1<\/jats:italic>\n \u2014may collectively contribute to the observed clinical phenotype. These findings suggest that microdeletions involving chromosome 10p11.2 are associated with a phenotype distinct from that of DeSanto\u2013Shinawi syndrome.\n <\/jats:p>","DOI":"10.1002\/ajmga.70070","type":"journal-article","created":{"date-parts":[[2026,2,2]],"date-time":"2026-02-02T09:23:11Z","timestamp":1770024191000},"page":"1388-1395","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Patient With Intellectual Disability, Agenesis of Corpus Callosum, and Congenital Heart Disease Associated With Chromosome 10p11.2 Microdeletion"],"prefix":"10.1002","volume":"200","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5415-656X","authenticated-orcid":false,"given":"Nobuhiko","family":"Okamoto","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7993-1964","authenticated-orcid":false,"given":"Eriko","family":"Nishi","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuiko","family":"Hasegawa","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Osaka Women's and Children's Hospital Izumi Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0644-5890","authenticated-orcid":false,"given":"Shin","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Genetics Institute for Developmental Research, Aichi Developmental Disability Center Kasugai Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,2,2]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11547"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38321"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010103069"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38600"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2018.02.027"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg\u20102023\u2010109293"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.02.023"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/497348"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2517\u201009.2009"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.12.001"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/genes15060650"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32088"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102015\u2010102992"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.71"},{"key":"e_1_2_12_16_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0032429"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70070","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmga.70070","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmga.70070","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,26]],"date-time":"2026-05-26T07:09:48Z","timestamp":1779779388000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmga.70070"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,2]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2026,6]]}},"alternative-id":["10.1002\/ajmga.70070"],"URL":"https:\/\/doi.org\/10.1002\/ajmga.70070","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,2]]},"assertion":[{"value":"2025-02-26","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-02-02","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}