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The protein encoded by <jats:italic>ARHGAP4<\/jats:italic> is thought to function as a Rho GTPase activating protein. Characterization of the genetic defect causing X\u2010linked nephrogenic diabetes insipidus (NDI) and intellectual disability in two dizygotic twin brothers revealed a novel contiguous deletion of 17,905\u2009bp encompassing the entire <jats:italic>AVPR2<\/jats:italic> gene and extending into intron 7 of the <jats:italic>ARHGAP4<\/jats:italic> gene. Examination of their mother showed that she was a carrier of this deletion. An attempt was made to distinguish the putative clinical signs of an <jats:italic>ARHGAP4<\/jats:italic> deletion from the well\u2010defined phenotype of X\u2010linked NDI caused by an <jats:italic>AVPR2<\/jats:italic> gene deletion. By reviewing all characterized deletions encompassing <jats:italic>ARHGAP4<\/jats:italic>, we reconsider the potential role of <jats:italic>ARHGAP4<\/jats:italic> in cognition. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35591","type":"journal-article","created":{"date-parts":[[2012,9,10]],"date-time":"2012-09-10T20:21:55Z","timestamp":1347308515000},"page":"2511-2518","source":"Crossref","is-referenced-by-count":19,"title":["A novel contiguous gene deletion of <i>AVPR2<\/i> and <i>ARHGAP4<\/i> genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability"],"prefix":"10.1002","volume":"158A","author":[{"given":"Lingli","family":"Huang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma","family":"Poke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jozef","family":"Gecz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kate","family":"Gibson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,9,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1937-6448(08)01601-8"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31842"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.semnephrol.2008.03.005"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.23.10977"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2006.05.001"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10011"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-7-53"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.162241099"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0169-328X(02)00448-5"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-9-42"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2009.06.047"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33353"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2005.11.005"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32386"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature04029"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl099"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.036350"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)14:2<163::AID-HUMU8>3.0.CO;2-B"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.2002-020286"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/2.11.1865"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32399"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32824"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/jcp.21552"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200508091"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.2.695"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp306"},{"key":"e_1_2_7_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mcn.2007.07.004"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1542\/pir.27-6-204"},{"key":"e_1_2_7_30_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201005082"},{"key":"e_1_2_7_31_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.05.001"}],"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.35591","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.35591","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:21:25Z","timestamp":1697635285000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.35591"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,9,10]]},"references-count":30,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2012,10]]}},"alternative-id":["10.1002\/ajmg.a.35591"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.35591","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,9,10]]}}}