Fig. 1.

A novel CFH/CFHR1 fusion protein is created in this patient by NAHR. (A) MLPA determination of copy number over the CFH–CFHR region identified a deletion beginning before CFH SCR 20 (encoded by CFH exon 22) and ending after CFHR1 SCR4 (encoded by CFHR1 exon 5). MLPA probes are represented by diamonds; boxes show SCRs and lines between the boxes represent either introns or intergenic sequence (not to scale). (B) The resulting fusion protein comprised SCRs 1–19 of CFH and SCR 5 of CFHR1. (C) Nuclear family showing the segregation of the CD46 c.1058C > T, p.A353V and the de novo NAHR event. (D) Western blotting of CFH using a polyclonal CFH antibody against sera from the patient (P) and a control (C) resolves bands of equal intensity and does not identify additional CFH bands in the patient.