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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