Fig. 1

Mutation in TELO2-interacting protein 2 (TTI2) in patient with microcephaly. a Schematic representation of the cellular role of TTI2 in PIKK stability. PIKK phosphatidylinositol 3-kinase-related kinases, Tel2 TELO2, TTI1 TELO2-interacting protein 1, TTI2 TELO2-interacting protein 2, Hsp90 heat-shock protein 90. b Pedigree of the family from the region of Charlevoix-Saguenay in Quebec, Canada. The black arrow indicates the case presented here. For simplicity, diamonds represent more than one individual of both genders. The double line represents second degree cousin parents. c Evolutionary conservation in different species of TTI2 amino acid sequence in the region of D317V mutation. Comparison of H. sapiens (human) TTI2 and its orthologues in P. troglodytes (chimpanzee), M. musculus (mouse), C. lupus (dog) and D. rerio (zebrafish). Non-conserved amino acids are denoted in red. The sequences are illustrated from N-terminal (left) to C-terminal (right). d Predicted domain of TTI2 protein. TTI2 contain only the armadillo-type fold domain. Red arrow illustrates the mutation described in this case and black arrow illustrates other mutations previously described (Table 1)