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Table 4 Details of disease-causing mutations identified in the prospective cohort

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]
  1. a The UNC13D inversion was detected with a specific multiplex PCR assay [34]
  2. b As predicted by NNSPLICE 0.9
  3. Hemi hemizygous, Het heterozygous, Hom homozygous, NA not applicable, XLP X-linked lymphoproliferative disease type 2