Table 3.
Genotype and age at HLH onset of previously published patients carrying severe bi-allelic mutations in CHS1/LYST.
| LYST mutations | Predicted effect | n | HLH onset (months) | Reference |
|---|---|---|---|---|
| c.2620delT | p.F874Ffs25X | 1 | 66 | Certain et al. (59) |
| c.C3310T | p.R1104X | 1 | 30 | Certain et al. (59) |
| c.7555delT | p.Y2519Ifs9X | 1 | 168 | Certain et al. (59) |
| c.del7060-7066 | p.delL2354_D2356Mfs15X | 1 | 19 | Certain et al. (59) |
| c.5317delA*/c.9228 + 10bp ins* | p.R1773Dfs12X*/p.H3076Hfs8X* | 1 | 16 | Certain et al. (59) |
| c.del9106-9161 | p.delG3036_S3054Gfs15X | 1 | 24 | Certain et al. (59) |
| c.9590delA | p.Y3197Lfs61X | 1 | 12 | Certain et al. (59) |
| c.5004delA | p.G1668Gfs28X | 1 | 12 | Scherber et al. (60) |
| c.5519delC | p.S1840Yfs1X | 1 | 108 | Scherber et al. (60) |
| c.9590delA | p.Y3197Lfs61X | 1 | 3 | Scherber et al. (60) |
| c.3622C > T*/c.11002G > T* | p.Q1208X*/E3668X* | 1 | 16 | Scherber et al. (60) |
| c.5506C > T | p.R1836X | 1 | 48 | Kaya et al. (61) |
| c.5506C > T | p.R1836X | 1 | 4 | Kaya et al. (61) |
| IVS24 c.7060-1G > A | Exon25fsX | 1 | 4 | Jessen et al. (46) |
| c.10551_10552del2 | p.Y3517X | 1 | 5 | Jessen et al. (46) |
| c.5506C > T | p.R1836X | 1 | 4 | Jessen et al. (46) |
| c.2374_2375 delGA | p.D792FX6 | 1 | 96 | Jessen et al. (46) |
| c.4508C > G | p.S1483X | 1 | 48 | Jessen et al. (46) |
| c.4508C > G | p.S1483X | 1 | 36 | Jessen et al. (46) |
| c.5506C > T | p.R1836X | 1 | 48 | Jessen et al. (46) |
| 10395delA | p.K3465Kfs2X | 1 | 24 | Karim et al. (62) |
All of the selected genetic anomalies were either large deletion, null mutations, introduce a stop codon or affect the first base of an intron predicted to induce a frameshift, and a consecutive stop codon.
*Heterozygous mutations; n = number of patients.