Figure 4.

(A) Splice predictions for MRE11 c414+4_314+7 show loss of donor site of exon 4 in four splice prediction programs [Alamut version 2.3 (Interactive Biosoftware, Rouen, France)]. (B) Retrospective western blot of Case 37 (Lane 6) showing a slight reduction of MRE11 but a clearer reduction of the interacting proteins hRAD50 and Nbs1, which is consistent with a diagnosis of ataxia-telangiectasia-like disorder caused by mutations in MRE11. Ataxia NGS panel identified two mutations, N117S and a splice mutation 314+4_314+7del. The normal size of MRE11 protein in the patient lane suggests that N117S produces a normally sized but abnormally functioning product, also reported by Stewart et al. (1999).