Table 3.
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