{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T03:11:05Z","timestamp":1789528265706,"version":"build-2803163510"},"reference-count":20,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2008,1,1]],"date-time":"2008-01-01T00:00:00Z","timestamp":1199145600000},"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":[[2008]]},"abstract":"WAGR (Wilms tumor, Aniridia, Genitourinary malformations and mental Retardation) syndrome is a rare genomic disorder caused by deletion of the 11p14-p12 chromosome region. The majority of WAGR patients have mental retardation and behavioral problems, and more than 20% of the patients also have features of autism. While the Wilms tumor\/genitourinary anomalies and aniridia are caused by deletion of <i>WT1<\/i> and <i>PAX6<\/i> respectively, the genomic cause of mental retardation and autism in WAGR syndrome remains unknown. Using oligonucleotide arrays, we have characterized the 11p14-p12 deletions in 31 patients and identified all the genes involved in each deletion. The deletions had sizes ranging from 4.9 to 23 Mb that encompass 18\u201362 genes (40 on average). In addition to <i>WT1 <\/i>and <i>PAX6<\/i>, all the patients had deletion of <i>PRRG4<\/i> (transmembrane gamma-carboxyglutamic acid protein 4). The majority of them had deletion of <i>BDNF <\/i>(brain-derived neurotrophic factor) and<i> SLC1A2<\/i> [solute carrier family 1 (glial high affinity glutamate transporter) member 2]. Deletion of <i>BDNF<\/i> and <i>SLC1A2<\/i> occurred in patients with autism more frequently than in those without autism. Literature review on the functions of the genes suggests that haploinsufficiency of <i>SLC1A2, PRRG4, <\/i>and <i>BDNF<\/i> may contribute to mental retardation and behavioral problems. In particular, <i>BDNF <\/i>may modulate the risk of autism in WAGR patients as suggested by its link with Rett syndrome as a target of <i>MECP2<\/i>. We observed that all the de novo deletions occurred in the chromosome 11 inherited from the father in the families genotyped, implying a predisposition for de novo mutations occurring in spermatogenesis and possible involvement of imprinting in cognitive impairment in WAGR patients.<\/jats:p>","DOI":"10.1159\/000172086","type":"journal-article","created":{"date-parts":[[2008,12,18]],"date-time":"2008-12-18T13:06:57Z","timestamp":1229605617000},"page":"181-187","source":"Crossref","is-referenced-by-count":90,"title":["Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism"],"prefix":"10.1159","volume":"122","author":[{"given":"S.","family":"Xu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Morales","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.M.","family":"Menzie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Y.-S.","family":"Fan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2008,12,18]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1120972"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1158%2F1541-7786.MCR-08-0002"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1177%2F1362361304042719"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1086446"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddh038"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-008-0484-x"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1097%2F01.gim.0000250502.28516.3c"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.20581"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1542%2Fpeds.2004-0467"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2Fddl478"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0994-13a"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2006.043166"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0394-305"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.ajhg.2007.12.009"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1090842"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1138659"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1985"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1086%2F444549"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1073%2Fpnas.0705803104"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1126%2Fscience.1059581"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/172086","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/172086","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T20:17:22Z","timestamp":1745439442000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000172086"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008]]},"references-count":20,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2008,12,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000172086","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008]]}}}