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We identified truncating mutations in <jats:italic>SALL1<\/jats:italic> and <jats:italic>GLI3<\/jats:italic> in patients with limb malformation and studied the contribution of nonsense\u2010mediated decay (NMD) to the expression of mutant mRNA in patient\u2010derived fibroblasts. Quantification of the relative proportions of mutant and wild\u2010type alleles was performed by pyrosequencing. In <jats:italic>SALL1<\/jats:italic>, a mutant allele causing Townes\u2013Brocks syndrome was unexpectedly resistant to NMD, whereas a different mutation causing a much milder phenotype was susceptible to NMD. In <jats:italic>GLI3<\/jats:italic>, all three mutant alleles tested were susceptible to NMD. This work provides novel insights into the molecular pathophysiology of <jats:italic>SALL1<\/jats:italic> and <jats:italic>GLI3<\/jats:italic> mutations, extends the phenotypic spectrum of <jats:italic>SALL1<\/jats:italic> mutations, and provides an example of a human mutation which does not follow the usual accepted positional rules governing mammalian NMD. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32097","type":"journal-article","created":{"date-parts":[[2007,11,14]],"date-time":"2007-11-14T21:46:32Z","timestamp":1195076792000},"page":"3150-3160","source":"Crossref","is-referenced-by-count":36,"title":["Nonsense\u2010mediated decay and the molecular pathogenesis of mutations in <i>SALL1<\/i> and 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