From: Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Gene | Mutation | Effect | Zygosity | Type | Called | Reference |
---|---|---|---|---|---|---|
PRF1 | c.272C>T | p.Ala91Val | Het | Missense | Yes | [52] |
PRF1 | c.797T>C | p.Ile266Thr | Het | Missense | Yes | This study |
UNC13D | c.2135_2137del | p.Ile712_Gly713delinsSer | Het | Deletion | Yes | This study |
UNC13D | c.2346_2349del | p.Arg782Serfs*12 | Het | Deletion | Yes | [53] |
UNC13D | c.1388A>C | p.Gln463Pro | Het | Missense | Yes | [41] |
UNC13D | c.118-307G>A | Reduced expression | Het | Regulatory | Yes | [41] |
UNC13D | C.2719_2722dup | p.Ser908TyrfsX3 | Het | Duplication | Yes | This study |
UNC13D | c.1992+1G>C | Altered splicing | Het | Splicing | Yes | This study |
STXBP2 | exon 2 deletion | - | Hom | Deletion | Yesa | This study |
STXBP2 | c.56T>C | p.Ile19Thr | Het | Missense | Yes | This study |
STXBP2 | c.704G>C | p.Arg235Pro | Het | Missense | Yes | This study |
XIAP | c.877G>A | p.Gly293Ser | Hemi | Missense | Yes | This study |
XIAP | c.1141C>T | p.Arg381* | Hemi | Nonsense | Yes | [10] |
RAB27A | c.148_149delinsC | p.Arg50Glnfs*35 | Hom | Indel | No | [54] |
RAB27A | c.514_518del | p.Gln172Asnfs*2 | Hom | Deletion | Yes | [6] |
LYST | c.2311C>T | p.Gln771* | Hom | Nonsense | Yes | this study |
LYST | c.1902dup | p.Ala635Serfs*4 | Hom | Duplication | Yes | [55] |
AP3B1 | c.1254dup | p.Gln419Thrfs*22 | Het | Duplication | Yes | this study |
AP3B1 | c.2626C>T | p.Arg876* | Het | Nonsense | Yes | this study |