Table 1 Patients without evidence of CNS abnormalities
Patient | Sex | Age at last report years | MAT1A allele 1/allele 2 | MAT activity % of WT | Cause ascer- tain Met | Age < 5 m Met range | Age ≥ 5 m Met mean ± SD | MRI (age) | Citation† |
|---|---|---|---|---|---|---|---|---|---|
G1 | F | 40.4 | c.966T>G (p.Ile322Met) | 7.8* | NBS | 1270 | 373 ± 133 | Normal (22) | |
c.966T>G (p.Ile322Met) | 21/21 | ||||||||
G2 | M | 38 | c.914T>C (p.Leu305Pro) | 10.2* | NBS | 364–583 | 394 ± 118 | --- | |
c.966T>G (p.Ile322Met) | 26/21 | ||||||||
G3 | F | 2 | c.164C>A (p.Arg55Asp) | 10.91* | NBS | 389–1020 | 315 | --- | |
c.1070C>T (p.Pro357Leu) | 26/31 | ||||||||
G4 | F | 31.4 | c.1068G>A (p.Arg356Gln) | 17.5* | NBS | 42–408 | 146 ± 38 | --- | |
c.1132G>A (p.Gly378Ser) | 11/0.2 | 402 | |||||||
2 | M | 60.1 | c.539insTG (p.Thr185X) | 28* | Breath odor | --- | 805 ± 106 | Normal (31) | |
c.539insTG (p.Thr185X) | |||||||||
3 | F | 21.5 | c.539insTG (p.Thr185X) | NA | NBS | 1870–2542 | 777 ± 169 | Normal (6) | |
c.539insTG (p.Thr185X) | 1870 | ||||||||
10a | M | 25 | c.595C>T (p.Arg199Cys) | 11/11 | NBS | 496–670 | 520 ± 124 | --- | |
c.595C>T (p.Arg199Cys) | 670 | ||||||||
11a | F | 28.5 | c.595C>T (p.Arg199Cys) | 11/11 | NBS | 591–654 | 475 ± 118 | --- | |
c.595C>T (p.Arg199Cys) | 591 | ||||||||
14 | F | 6.4 | c.966T>G (p.Ile322Met) | 11/11 | NBS | 440–467 | 225 ± 57 | --- | |
c.1031A>C (p.Glu344Ala) | |||||||||
15b | F | 2.2 | c.1132G>A (p.Gly378Ser) | 0.2/75 | NBS | 383–1089 | 519 | --- | [80] |
c.1161G>A (p.Trp387X) | |||||||||
16b | F | 4.7 | c.1132G>A (p.Gly378Ser) | 0.2/75 | Family | --- | 782 ± 400 | --- | [80] |
c.1161G>A (p.Trp387X) | |||||||||
17 | F | 21.4 | c.791C>T (p.Arg264Cys) | 0.3/31 | NBS | 648 | 322 | --- | [42] |
c.1070C>T (p.Pro357Leu) | |||||||||
18 | M | 21.2 | c.1070C>T (p.Pro357Leu) | 31/31 | NBS | 505 | 325 ± 244 | --- | [42] |
c.1070C>T (p.Pro357Leu) | |||||||||
19 | F | 16.5 | c.1067G>C (p.Arg356Pro) | 11/31 | NBS | 622 | 175 | --- | |
c.1070C>T (p.Pro357Leu) | |||||||||
21 | F | 7.1 | c.836G>T (p.Gly279Val) | NA/2 | NBS | 596 | 436 ± 1 | --- | [34] |
c.964A>G (p.Ile322Val) | |||||||||
23 | F | 3.9 | c.539insTG (p.Thr185X) | NA | NBS | 216–1457 | 665 ± 160 | --- | [38] |
c.822G>C (p.Trp274Ser) | |||||||||
24c | M | 1.2 | c.689T>G (p.Val230Gly) | NA | NBS | 518–525 | 769 ± 112 | --- | |
c.689T>G (p.Val230Gly) | |||||||||
25c | F | 4.9 | c.689T>G (p.Val230Gly) | NA | Family | – | 838 ± 18 | --- | |
c.689T>G (p.Val230Gly) | |||||||||
26 | F | 2.9 | c.527T>A (p.Leu176Gln) | NA | NBS 57 | 57–200 | 76 ± 24 | --- | |
c.527T>A (p.Leu176Gln) | |||||||||
28 | F | 20 | c.65C>T (p.Ser22Leu) | 46/46 | NBS | --- | 975 ± 177 | normal (20) | |
c.65C>T (p.Ser22Leu) | |||||||||
33 | U | 2 | c.856G>A (p.Asp286Asn) | NA | NBS | 106–1570 | |||
del at least exons 6-8 | |||||||||
40 | F | 0.4 | c.1141G>A (p.Gly381Arg) | 25/25 | NBS | 1207–2121 | 1673 | --- | [34] |
c.1141G>A (p.Gly381Arg) | |||||||||
44 | M | 0.2 | c.529C>T (p.Arg177Trp) | NA | NBS 97 | 97–641 | --- | --- | |
c.529C>T (p.Arg177Trp) | |||||||||
48 | M | 5.4 | c.446T>A (p.Met64Lys) | NA | NBS 134 | 134–1567 | --- | Normal (yearly, final at 5) DQ 88 | [39] |
c.589delC (p.Pro197Leufs*26) | |||||||||
49 | F | 0.3 | c.110T>C (p.Ile37Thr) | NA | NBS 407 | 403–408 | --- | --- | [31] |
c.271G>A (p.Gly91Ser) | |||||||||
52 | M | 0.54 | c.823G>C (p.Gly275Arg) | NA | NBS | 949–1074 | --- | normal (0.5) | |
c.823G>C (p.Gly275Arg) | |||||||||
53 | F | 2.3 | c.862A>G (p.Thr288Ala) | NA | NBS | 121–484 | 495 ± 275 | [30] | |
c.862A>G (p.Thr288Ala) | |||||||||
54 | F | 2.0 | c.1064T>G (p.Leu355Arg) | NA | NBS 185 | 185–410 | --- | --- | [30] |
c.1064T>G (p.Leu355Arg) | |||||||||
57 | U | 3.5 | c.169+1G>A | NA | NBS 860 | 860–1130 | 918 ± 84 | --- | |
c.169+1G>A | |||||||||
58d | M | 12.3 | not sequenced | 22.7* | NBS | 268–1005 | 369 ± 237 | --- | [15] |
268 | |||||||||
59d | M | 13.7 | not sequenced | 23.1* | Family | --- | 350 ± 50 | --- | [15] |
64 | M | 4.5 m | c.596G>A (p.Arg199His) | NA | NBS | 118–208 | --- | --- | |
c.596G>A (p.Arg199His) |