{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T09:35:53Z","timestamp":1766136953713,"version":"3.40.5"},"reference-count":29,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,1,1]],"date-time":"2017-01-01T00:00:00Z","timestamp":1483228800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2017]]},"abstract":"GLI family zinc finger proteins are transcriptional effectors of the sonic hedgehog signaling pathway. GLI regulates gene expression and repression at various phases of embryonic morphogenesis. In humans, 4 <i>GLI<\/i> genes are known, and <i>GLI2<\/i> (2q14.2) and <i>GLI3<\/i> (7p14.1) mutations cause different syndromes. Here, we present 2 distinctive cases with a chromosomal microdeletion in one of these genes. Patient 1 is a 14-year-old girl with Culler-Jones syndrome. She manifested short stature, cleft palate, and mild intellectual\/social disability caused by a 6.6-Mb deletion of 2q14.1q14.3. Patient 2 is a 2-year-old girl with Greig cephalopolysyndactyly contiguous gene deletion syndrome. She manifested macrocephaly, preaxial polysyndactyly, psychomotor developmental delay, cerebral cavernous malformations, and glucose intolerance due to a 6.2-Mb deletion of 7p14.1p12.3 which included <i>GLI3<\/i>, <i>GCK<\/i>, and <i>CCM2<\/i>. Each patient manifests a different phenotype which is associated with different functions of each <i>GLI<\/i> gene and different effects of the chromosomal contiguous gene deletion. We summarize the phenotypic extent of GLI2\/3 syndromes in the literature and determine that these 2 syndromes manifest opposite features to a certain extent, such as midface hypoplasia or macrocephaly, and anterior or posterior side of polydactyly. We propose a GLIA\/R balance model that may explain these findings.<\/jats:p>","DOI":"10.1159\/000485227","type":"journal-article","created":{"date-parts":[[2018,1,3]],"date-time":"2018-01-03T22:03:43Z","timestamp":1515017023000},"page":"56-65","source":"Crossref","is-referenced-by-count":11,"title":["Human Malformation Syndromes of Defective <b><i>GLI<\/i><\/b>: Opposite Phenotypes of 2q14.2 (<b><i>GLI2<\/i><\/b>) and 7p14.2 (<b><i>GLI3<\/i><\/b>) Microdeletions and a GLIA\/R Balance Model"],"prefix":"10.1159","volume":"153","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5641-7962","authenticated-orcid":false,"given":"Yo","family":"Niida","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mika","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mamoru","family":"Ozaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Etsuko","family":"Takase","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2018,1,4]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12952"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1530\/JME-15-0009"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2013-102249"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2010.01606.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-3-10"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3171\/PED-07\/12\/495"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1040"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2012.07.017"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1242\/dev.01115"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-8"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2010-1050"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36786"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/cen.12637"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2006.00601.x"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-092910-154048"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.11.010"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1086\/429346"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21328"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34350"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36972"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1443"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12276"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31378"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2235734100"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0000864"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1101\/gad.325905"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1693608"},{"key":"ref28","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62934-6"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33829"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/485227","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/485227","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:23:14Z","timestamp":1745425394000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000485227"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017]]},"references-count":29,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2018,1,18]]}},"URL":"https:\/\/doi.org\/10.1159\/000485227","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2017]]}}}