Figure 4.

Summary of the location of already documented mutations in human TKS4 gene of patients and mouse TKS4 gene of TKS4 KO strains. (a) Mutations along the hTKS4 protein in Frank-ter Haar syndrome (FTHS) and in FTHS-like Borrone dermato-cardio-skeletal syndrome (BDCSS) individuals. The exact sequence location of the mutations in hTKS4 is numbered and the nucleotide deletions, substitutions, or insertions are depicted in black boxes. Iqbal et al. and Bendon et al. published the five mutations connected to FTHS [164,165]. The two BDCSS-associated mutations are described by Wilson et al. [186]. (b) Mutations along the mTKS4 protein in the three existing TKS4 KO mouse strains are depicted in black boxes [34,164,166]. PX–Phox homology domain, SH3–SRC homology 3 domain.