Overlapping Phenotypes in Osteopetrosis and Pycnodysostosis in Asian-Indians

Figure 4

Pathogenic and likely pathogenic variants reported in CTSK gene leading to pycnodysostosis and sometimes osteopetrosis. The schematic representation of genomic structure of CTSK gene showing a total of 39 reported pathogenic (7) and likely pathogenic (32) gene variants for pycnodysostosis in 8 exons in which exon1 is non-coding (shown in shaded boxes). The top half of the figure show distribution of 13 missense variants in upper panel, 10 frameshift, 6 nonsense (with sign), 6 and 4 splice donor (blue colored) and splice acceptor (red colored) variants respectively in lower panel. The bottom half of the figure shows protein having 15 residues pre-region, 99 residues pro-region and 215 amino acid long mature proteins. The index child in present report showed variant c.136C > T (highlighted in red box) associated with pycnodysostosis.