FTHS is a recessive hereditary disease caused by mutations of the SH3PXD2B (SH3 and PX domains 2B) gene on chromosome 5q35; this gene codes for the TKS4 podosome adaptor protein, which regulates the epidermal growth factor signaling pathway [2,11]. The gene discussed is SH3PXD2B; the disease is glycogen storage disease VI.