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Since 2002, mutations in the <jats:italic>SALL4<\/jats:italic> locus have been reported producing phenotypic features quite similar to those in IVIC syndrome; this gene was thus proposed as a candidate for the condition. A segregation analysis of four SNPs in exon 2 (c.1520T\u2009&gt;\u2009G, c.1860A\u2009&gt;\u2009G, c.2037C\u2009&gt;\u2009T, and c.2392A\u2009&gt;\u2009C) was carried out in 14 affected and in 15 normal family members. Haplotype T;A;C;A was found to always segregate with the disease. Sequencing the whole coding regions revealed one heterozygous base deletion in exon 3 (c.2607delA) causing a premature stop signal 44 codons downstream (p.Q869fsX44) which segregates with the phenotype, being absent in controls. The large number of affected individuals presumably carrying the same mutation (n\u2009=\u200926) with quite different degrees of involvement allowed a discussion about possible mechanisms for the <jats:italic>SALL4<\/jats:italic> action. The finding of a <jats:italic>SALL4<\/jats:italic> mutation in a family with such a wide pleiotropic spectrum proves that at least Okihiro, acro\u2010renal\u2010ocular and IVIC syndromes are allelic entities. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31603","type":"journal-article","created":{"date-parts":[[2007,1,27]],"date-time":"2007-01-27T01:17:10Z","timestamp":1169860630000},"page":"326-332","source":"Crossref","is-referenced-by-count":45,"title":["IVIC syndrome Is caused by a c.2607delA mutation in the <i>SALL4<\/i> locus"],"prefix":"10.1002","volume":"143A","author":[{"given":"Irene","family":"Paradisi","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sergio","family":"Arias","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,1,26]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/343821"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320060105"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2006.07.124"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.019901"},{"key":"e_1_2_6_6_1","first-page":"1450","article-title":"A simple and nonradioactive method for detecting the Rb1.20 DNA polymorphism in the retinoblastoma gene","volume":"51","author":"Brandt B","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1460-9568.2005.04584.x"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.04-0393"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh218"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(18)91014-7"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330228"},{"key":"e_1_2_6_12_1","first-page":"201","article-title":"Monozygotic twins discordant for the oculo\u2010oto\u2010radial syndrome (IVIC syndrome)","volume":"8","author":"El\u00e7ioglu N","year":"1997","journal-title":"Genet Counsel"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(66)80051-3"},{"key":"e_1_2_6_14_1","first-page":"11","article-title":"Patr\u00f3n de excreci\u00f3n de prolina, hidroxiprolina e hidroxilisina glicosilada o no en la osteocondrodisplasia IVIC","volume":"30","author":"Gerder M","year":"1979","journal-title":"Acta Cient Venez"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.12.876"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(03)00043-9"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02259"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320220208"},{"key":"e_1_2_6_19_1","first-page":"543","article-title":"Chemical structure and teratogenic properties IV. 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