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We report on eight new cases of this condition, two of whom were shown to have heterozygous missense mutations in the C\u2010terminal zinc finger domains of <jats:italic>WT1<\/jats:italic>: Arg366Cys and Arg394Trp. These data represent clinical and molecular evidence that the <jats:italic>WT1<\/jats:italic> gene plays a central role in normal development of the diaphragm and the proepicardially derived tissues. Identification of <jats:italic>WT1<\/jats:italic> expression in the region of coelomic mesothelium which will form the proepicardium and diaphragm provides a plausible unifying patterning defect in these cases. Interestingly, the Arg366Cys mutation has been previously reported in Denys\u2013Drash syndrome and Arg394Trp mutation has been previously reported in both isolated Wilms tumor and Denys\u2013Drash syndrome. This phenotypic diversity with a single mutation suggests there are other factors modulating all aspects of WT1 function during human development. If genetic modifiers of <jats:italic>WT1<\/jats:italic> can be identified in animal models these become good candidate genes for the cases with Meacham syndrome we report on here where <jats:italic>WT1<\/jats:italic> mutations cannot be identified. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31924","type":"journal-article","created":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T23:16:23Z","timestamp":1189638983000},"page":"2312-2320","source":"Crossref","is-referenced-by-count":76,"title":["<i>WT1<\/i> mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations"],"prefix":"10.1002","volume":"143A","author":[{"given":"Mohnish","family":"Suri","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Kelehan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"O'Neill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shantala","family":"Vadeyar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith","family":"Grant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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