Fig 9. WMMS for heterozygous mutations.

[A] A flowchart of the process used to generate WMMS’s for heterozygous mutations. Data were assessed from fifty NKH patients with compound heterozygous mutations and at least two scorable major symptomatic domains. Control data was from twenty healthy individuals with heterozygous variants obtained from the dbGaP database who were assigned COS of 0. [B] MMS parameters were weighted to maximize the correlation R²-value and yielded the COS vs WMMS plot shown. [C] Display of WMMS of Allele 1 versus Allele 2 for heterozygous patients yields characteristic of three different disease states namely asymptomatic/no disease (COS = 0; open dots), attenuated disease (COS = 1–5; blue dots), and severe disease (COS > 5; red dots) patients. Gating captured 100%, 93.1% and 71.4% of these respective populations, supporting the claim that WMMS scoring can clearly separate the different disease states.