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pubmed:abstractText |
Different molecular factors have been identified as being associated with isolated or syndrome-associated forms of hypospadias. Nevertheless, the etiology of hypospadias is unknown in 70% of cases. As mutations in the homeobox gene A13 (HOXA13) were all found to be associated with hypospadias in affected males, some types of mutation may solely lead to the isolated form. Moreover, mutations in the Wilms' tumor suppressor gene WT1 have been found in patients with hypospadias without evidence of a Wilms' tumor and, therefore, its recently identified associated protein (WTAP) may be a further candidate gene for the genesis of hypospadias.
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