{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,25]],"date-time":"2025-05-25T00:26:11Z","timestamp":1748132771642,"version":"3.40.4"},"reference-count":24,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2016]]},"abstract":"Haploinsufficient microdeletions within chromosome 4q25 are often associated with Axenfeld-Rieger syndrome. A de novo 4q25 deletion, 675 kb proximal to <i>PITX2<\/i>, has previously been reported once in an adult patient. The patient did not have Axenfeld-Rieger anomaly, but instead had intellectual disability and a complex behavioral phenotype with withdrawn, stereotypic, and ritualistic behavior. Array comparative genome hybridization demonstrated a smaller, overlapping 4q25 deletion in a 2-year-old patient and his mother, both having significant phenotypic overlap with the initially reported patient. All 3 patients have distinct facial features (including mild hypotelorism and subtle mandibular asymmetry), developmental delay, and complex behavioral difficulties. A genotype-phenotype correlation narrows the shared phenotype to a common <i>COL25A1<\/i> gene aberration and proposes that the concurrent <i>EGF<\/i> gene loss has a significant impact on the phenotypic severity. Overall, our patients provide data to support the existence of a novel 4q25 proximal deletion syndrome.<\/jats:p>","DOI":"10.1159\/000447077","type":"journal-article","created":{"date-parts":[[2016,6,23]],"date-time":"2016-06-23T12:10:03Z","timestamp":1466683803000},"page":"138-143","source":"Crossref","is-referenced-by-count":3,"title":["A Rare Recurrent 4q25 Proximal Deletion Not Involving the PITX2 Gene: A Genomic Disorder Distinct from Axenfeld-Rieger Syndrome"],"prefix":"10.1159","volume":"7","author":[{"given":"Jennifer L.","family":"Heithaus","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimberly A.","family":"Twyman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacqueline R.","family":"Batanian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,6,23]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00000647"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-003-1161-7"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddq075"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2005-10-007252"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.20.9.3037-3048.2000"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/35093500"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001081"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1172\/JCI31680"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/emboj\/21.7.1524"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.febslet.2012.04.010"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.biopsych.2011.12.011"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.9.3608-3619.2005"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/nature07767"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2741"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2014.11.006"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.18.9893"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2440-13.2014"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.24.7461"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds005"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2013.03.012"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.b.31209"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22338"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2012.10.023"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/447077","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/447077","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/447077","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:50:25Z","timestamp":1745427025000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000447077"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":24,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2016,7,25]]}},"URL":"https:\/\/doi.org\/10.1159\/000447077","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2016]]}}}