Figure 2.

(A) T2 weighted MRI imaging from Patient B during acute encephalomyelitis and following treatment with pulsed methylprednisolone. (B) Pedigree of Patient B showing genotypes of rare CFI variants. NA, DNA not available for deceased individuals. (C) Visualization of read-level information shows that the two CFI variants, lying 71 bp apart, are easily phased by the 150 bp reads and are in trans (boxed). The absence of the c.191C>T variant in the mother (lower panel) is insufficient to confirm an in trans orientation as the variant may have arisen de novo. (D) Free energy change calculations for known missense, disease-causing point mutations in complement factor I with mutations from Patient B shown in red.