Osteopathia striata with cranial sclerosis, Wilms’ tumor and the WTX gene

Figure 1 WTX mutations in osteopathia striata with cranial sclerosis and Wilms’ tumor. The full length WTX protein possesses two phosphatidylinositol(4,5)-bisphosphate [PtdIns(4,5)P₂] binding domains, three adenomatous polyposis coli binding domains (APCBD) and a β-catenin binding region (red line)[2,3]. The smaller WTX isoform lacks amino acids 50-326 (green line)[1,5]. Functionally relevant mutations include whole gene deletions and truncating mutations. Arrows indicate the position of mutations introducing a stop codon or causing a frameshift of the reading frame and a premature stop codon[1,6-8,12,24,38,39,44,46,47].