LOF variants falling under maximum multipoint linkage regions in large HL pedigrees. (A) Segregation of IRF7-p.W238∗ among 4 affected relatives in HL3402. (B) MLOD plot on chromosome 11 with IRF7 location indicated. (C) Protein paint diagram showing the location of stop-gain variant p.W238∗, which could result in the removal of the IRF-3 functional domain. (D) Segregation of EEF2KMT-p.K177∗ among 2 affected relatives and 2 obligate carriers in HL3402. Two unaffected siblings also carry the variant. (E) MLOD plot on chromosome 16 with the EEF2KMT location indicated. (F) Protein paint diagram showing the location of stop-gain variant p.K177∗, which could result in the removal of part of the AdoMet_MTases functional domain.