Perotti et al. (2001) reported the molecular and cytogenetic characterization of a patient with Wilms tumor carrying an interstitial deletion in 7p14. LOH studies revealed that the same region was lost in 8 of 38 examined WTs, suggesting ... Perotti et al. (2001) reported the molecular and cytogenetic characterization of a patient with Wilms tumor carrying an interstitial deletion in 7p14. LOH studies revealed that the same region was lost in 8 of 38 examined WTs, suggesting that the identified interval contains a putative tumor suppressor gene. To confirm this hypothesis, Perotti et al. (2004) analyzed an additional 35 WTs, 4 of which showed LOH in the region of interest. Furthermore, they defined more accurately the extension of the interstitial deletion, mapping it within an interval of approximately 390 kb. They stated that only a single expressed gene, POU6F2, had been identified in this interval. Sequencing of the gene in 12 WTs showing LOH and in a corresponding number of WT cases without LOH led to the identification of 2 germline mutations in the POU6F2 gene in 2 patients showing LOH (609062.0001-609062.0002).