From: Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Patient ID | Gene | Mutation | Effect | Zygosity | Type | Associated disease | Reference |
---|---|---|---|---|---|---|---|
P48 | PRF1 | c.272C>T | p.Ala91Val | Het | Missense | FHL2 | [52] |
c.1288G>T | p.Asp430Tyr | Het | Missense | [56] | |||
P20 | PRF1 | c.659G>A | p.Gly220Asp | Hom | Missense | FHL2 | This study |
P35 | PRF1 | c.673C>T | p.Arg225Trp | Hom | Missense | FHL2 | [57] |
P16, P40 | PRF1 | c.1122G>A | p.Trp374* | Hom | Nonsense | FHL2 | [57] |
P17 | PRF1 | c.1349C>T | p.Thr450Met | Hom | Missense | FHL2 | [58] |
P19 | PRF1 | c.1179C>A | p.Cys393* | Het | Nonsense | FHL2 | This study |
c.1434G>T | p.Leu478Arg | Het | Missense | This study | |||
P11 | UNC13D | c.569+5G>A | Altered splicingb | Het | Splicing | FHL3 | [53] |
inversiona | Het | Inversion | [34] | ||||
P1 | UNC13D | c.570-1G>A | Altered splicingb | Hom | Splicing | FHL3 | This study |
P37 | UNC13D | c.753+1G>T | Altered splicingb | Hom | Splicing | FHL3 | [59] |
P10 | UN13D | c.2236C>T | p.Gln746* | Het | Nonsense | FHL3 | This study |
c.2346_2349del | p.Arg748Serfs*12 | Het | Deletion | ||||
P50 | UNC13D | c.2709+2T>A | Altered splicingb | Hom | Splicing | FHL3 | This study |
P58 | UNC13D | c.2544delT | p.Ile848Metfs*67 | Hom | Deletion | FHL3 | This study |
P9, P38, P39 | STX11 | c.369_376delinsTGG | p.Val124Glyfs*60 | Hom | Indel | FHL4 | [60] |
P56 | STX11 | Exonic deletion | - | Hom | Large deletion | FHL4 | NA |
P26 | XIAP | Exonic deletion | - | Hemi | Large deletion | XLP2 | NA |
P2 | LYST | c.9107-20_9109_del | Altered splicing | Hom | Splicing | CHS | [61] |
P22 | LYST | c.2749_2750del | p.Arg917Glyfs*5 | Hom | Deletion | CHS | This study |
P53 | RAB27A | c.148_149delinsC | p.Arg50Glnfs*35 | Hom | Indel | GS2 | [54] |
P41 | RAB27A | c.514_518del | p.Gln172Asnfs*2 | Hom | Deletion | GS2 | [6] |