{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T17:51:44Z","timestamp":1789667504832,"version":"4.0.1"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T00:00:00Z","timestamp":1464912000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Ministry of Health, Labour, and Welfare"},{"name":"Keio University Research Grants"},{"name":"Japan Foundation for Pediatric Research","award":["14-002"],"award-info":[{"award-number":["14-002"]}]},{"name":"Grant-in-Aid for Scientific Research","award":["16K09974"],"award-info":[{"award-number":["16K09974"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,10]]},"abstract":"A recent study of exome analyses in 109 patients with undiagnosed diseases included a 5\u2010year\u2010old girl with intellectual disability and multiple congenital anomalies, who had an apparently de novo frameshift mutation in SON<\/jats:italic>. However, the combination of the truncating mutation in SON<\/jats:italic> and the phenotype has not been reproduced until date, and it remains unclear if this combination represents a distinctive disease entity. Here we report an additional male with intellectual disability, congenital heart disease, distinctive facial features with curly hair and protruding ears, and long slender extremities, and hyperextensible joints. Exome analysis showed that he had the same de novo frameshift mutation in SON<\/jats:italic> in a heterozygous state. Along with the first and original description of the apparently de novo truncating mutation in SON<\/jats:italic> mentioned above, we have established that haploinsufficiency of SON<\/jats:italic> causes a new recognizable syndrome of intellectual disability. SON<\/jats:italic> is located within 21q22.11, a critical region for Braddock\u2013Carey syndrome, which is characterized by congenital thrombocytopenia, intellectual disability, micrognathia, and a distinctive facies. Therefore, we suggest that the intellectual disability observed in Braddock\u2013Carey syndrome could be accounted for by haploinsufficiency of SON<\/jats:italic>. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37761","type":"journal-article","created":{"date-parts":[[2016,6,3]],"date-time":"2016-06-03T05:12:52Z","timestamp":1464930772000},"page":"2587-2590","source":"Crossref","is-referenced-by-count":43,"title":["Establishing SON<\/i> in 21q22.11 as a cause a new syndromic form of intellectual disability: Possible contribution to Braddock\u2013Carey syndrome phenotype"],"prefix":"10.1002","volume":"170","author":[{"given":"Toshiki","family":"Takenouchi","sequence":"first","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"},{"name":"Department of Pediatrics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiyokuni","family":"Miura","sequence":"additional","affiliation":[{"name":"Department of Child Neurology Toyota Municipal Child Development Center Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoko","family":"Uehara","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seiji","family":"Mizuno","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Central Hospital Aichi Human Service Center Aichi Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenjiro","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Center for Medical Genetics Keio University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2016,6,3]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199401000-00011"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1206524"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36377"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1994.tb00723.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0912629107"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature13127"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10945"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.2000.6254"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.191"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37761","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37761","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T02:17:41Z","timestamp":1694312261000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37761"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,6,3]]},"references-count":9,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2016,10]]}},"alternative-id":["10.1002\/ajmg.a.37761"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37761","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,6,3]]}}}