{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:04Z","timestamp":1786976824266,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,5]],"date-time":"2019-03-05T00:00:00Z","timestamp":1551744000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>\n                    <jats:italic>ARID2<\/jats:italic>\n                    loss\u2010of\u2010function is associated with a rare genetic disorder characterized in 14 reported patients to date.\n                    <jats:italic>ARID2<\/jats:italic>\n                    encodes a member of the SWItch\/sucrose non\u2010fermentable chromatin remodeling complex. Other genes encoding subunits of this complex, such as\n                    <jats:italic>ARID1A<\/jats:italic>\n                    ,\n                    <jats:italic>ARID1B<\/jats:italic>\n                    , and\n                    <jats:italic>SMARCA2<\/jats:italic>\n                    , are mutated in association with Coffin\u2010Siris syndrome (CSS) and Nicolaides Baraitser syndrome (NCBRS) phenotypes. Previously reported\n                    <jats:italic>ARID2<\/jats:italic>\n                    mutations manifested clinically with a CSS\u2010like phenotype including intellectual disability, coarsened facial features, fifth toenail hypoplasia, and other recognizable dysmorphisms. However, heterogeneity exists between previously reported patients with some patients showing more overlapping features with NCBRS. Herein, we present a patient with a novel disease\u2010causing\n                    <jats:italic>ARID2<\/jats:italic>\n                    loss\u2010of\u2010function mutation. His clinical features included intellectual disability, coarse and dysmorphic facial features, toenail hypoplasia, ADHD, short stature, and delayed development consistent with prior reports. Our patient also presented with previously unreported clinical findings including ophthalmologic involvement, persistent fetal fingertip and toetip pads, and diffuse hyperpigmentary and hypopigmentary changes sparing his face, palms, and soles. The anomalous skin findings are particularly of interest given prior literature outlining the role of ARID2 in melanocyte homeostasis and melanoma. This clinical report and review of the literature is further affirming of the characteristic symptoms and expands the phenotype of this newly described and rare syndrome.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61075","type":"journal-article","created":{"date-parts":[[2019,3,6]],"date-time":"2019-03-06T02:55:54Z","timestamp":1551840954000},"page":"808-812","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Patient with anomalous skin pigmentation expands the phenotype of\n                    <i>ARID2<\/i>\n                    loss\u2010of\u2010function disorder, a SWI\/SNF\u2010related intellectual disability"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2230-0517","authenticated-orcid":false,"given":"Rohan","family":"Khazanchi","sequence":"first","affiliation":[{"name":"College of Medicine University of Nebraska Medical Center  Omaha Nebraska"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carey A.","family":"Ronspies","sequence":"additional","affiliation":[{"name":"Munroe\u2010Meyer Institute for Genetics &amp; Rehabilitation University of Nebraska Medical Center  Omaha Nebraska"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Scott C.","family":"Smith","sequence":"additional","affiliation":[{"name":"Munroe\u2010Meyer Institute for Genetics &amp; Rehabilitation University of Nebraska Medical Center  Omaha Nebraska"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9212-2499","authenticated-orcid":false,"given":"Lois J.","family":"Starr","sequence":"additional","affiliation":[{"name":"Munroe\u2010Meyer Institute for Genetics &amp; Rehabilitation University of Nebraska Medical Center  Omaha Nebraska"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-017-1757-z"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.biochem.77.062706.153223"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.04.014"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1101\/cshperspect.a026930"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.06.024"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1158\/1538-7445.AM2014-3431"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2014.08.009"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1615\/CritRevEukaryotGeneExpr.2014007882"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.aao1710"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1005748"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-015-0454-0"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1105"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38407"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2014.115"}],"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.61075","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61075","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T07:39:37Z","timestamp":1694331577000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,3,5]]},"references-count":15,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["10.1002\/ajmg.a.61075"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61075","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,3,5]]},"assertion":[{"value":"2018-06-21","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2018-12-13","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-03-05","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}