Skip to main content

Table 2 Disease-causing mutations used in the validation phase

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

  1. aThe STXBP2 exonic deletion was detected by inspection of coverage plots
  2. Hemi hemizygous, Het heterozygous, Hom homozygous