Homozygous loss-of-function mutations in Sh3pxd2b gene lead to deletion or dysfunction of Tks4 protein, and lack of functional Tks4 causes a rare hereditary disease called Frank-ter Haar syndrome (FTHS, OMIM:249420)14. The gene discussed is SH3PXD2B; the disease is Dermato-cardio-skeletal syndrome, Borrone type.