Copyright ©2014 Baishideng Publishing Group Inc.
World J Med Genet. May 27, 2014; 4(2): 34-38
Published online May 27, 2014. doi: 10.5496/wjmg.v4.i2.34
Figure 1
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].