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. 2022 May 12;18(7):490–497. doi: 10.1007/s12519-022-00545-1

Table 3.

Gene mutations

Family Patient Gene Mutation Diagnosis
F1 P1a TREX1

c.505C > T, p.R169C

c.900delA, p.S301Lfs*31

AGS1
F2 P2a TREX1

c.139G > A, p.G47S

c.458dupA, p.C154Mfs*3

AGS1
F3 P3a TREX1

c.459dupA, p.C154Mfs*3

c.695delA, p.Y232Sfs*3

AGS1
F4

P4 [32]

Sister of P5

TREX1

c.227C > T, p.A76V

c.458dupA, p.Q153fs*3

AGS1
F4

P5 [32]

Brother of P4

TREX1

c.227C > T, p.A76V

c.458dupA, p.Q153fs*3

AGS1
F5 P6 [14] TREX1

c.45G > T, p.R15S

c.139G > A, p.G47S

c.459_490insA

AGS1
F6 P7 [15]b TREX1

c.294dupA, p.C99fs

c.868_885del, p.P290_A295del

AGS1
F7 P8 [16]c RNASEH2B

c.859G > T, p.A287S, Hom

c.269C > T, p.P90L, Het

AGS2
F8

P9 [17]

Brother of P10

RNASEH2B

c.294_295insA, p.C99MfsX2

c.868_885del, p.290_295delaa

AGS2
F8

P10 [17]

Sister of P9

RNASEH2B

c.294_295insA, p.C99MfsX2

c.868_885del, p.290_295delaa

AGS2
F9 P11c RNASEH2C

c.194G > A, p.G65D

c.427A > G, p.K143E

AGS3
F10 P12c RNASEH2C

c.227C > T, p.P76L

c.194G > A, p.G65D

AGS3
F11 P13c RNASEH2C

c.461C > T, p.A154V

c.197G > A, p.R66H

AGS3
F12 P14 [18] RNASEH2A

c.199G > C, p.D67H

c.322C > T, p.R108W

AGS4
F13 P15a,d ADAR1 c.305_306del, p.Q102Rfs*22 AGS6
F14 P16 [19]e ADAR1

c.1A > G, p.M1V

c.3124C > T, p.R1042C

AGS6
F15 P17 [20]a IFIH1 c.1016C > A, p.A339D AGS7
F16 P18 [21]f IFIH1 c.2336G > A, p.R779H AGS7
F17 P19 [22] IFIH1 c.2336G > A, p.R779H AGS7
F18 P20c IFIH1 c.2336G > A, p.R779H AGS7
F19 P21a IFIH1 c.2336G > A, p.R779H AGS7
F20

P22a,g

Brother of P23

IFIH1 c.2131C > A, p.Q711K AGS7
F20

P23a,g

Sister of P22

IFIH1 c.2131C > A, p.Q711K AGS7

New mutations are labelled in bold. TREX1 three prime repair exonuclease 1, RNASEH2A ribonuclease H2 subunit A, RNASEH2B ribonuclease H2 subunit B, RNASEH2C ribonuclease H2 subunit C, ADAR1 adenosine deaminase acting on RNA, IFIH1 interferon induced with helicase C domain 1, AGS Aicardi-Goutieres syndrome. aThese case were from the Department of Pediatrics, Peking Union Medical College Hospital; bthe sister of the patient had the same mutation, only showing a chilblain-like rash; cthis case was from the Department of Rheumatology and Immunology, Shenzhen Children's Hospital; dthe father of the patient had the same mutation, showing only a chilblain-like rash; ethe brother of the patient had the same mutation, only showing symmetric pigment abnormalities; fthe mother and small brother of the patient had the same mutation but no clinical symptoms; gthe mother of the patient had the same mutation but no clinical symptoms