The mutational spectrum of BBS9 gene has reported 12 missense/non-sense mutations, 2 splice site changes, 2 small deletions, 2 small insertions and 4 gross deletions in BBS phenotype (HGMD database; URL: http://www.hgmd.cf.ac.uk/ac/index.php), where as one complex rearrangement in BBS9 is associated with Wilms tumor (HGMD database; [29]). The gene discussed is BBS9; the disease is Wilms tumor.