Study discontinuation | DAS-II GCA score | DAS-II nonverbal reasoning standard scorea | DAS-II verbal standard scorea | Variant data | ||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ID | Age (years) | Discontinuation (Y/N) | Study year (M) | Reason for discontinuation | Enrolled in 094 (Y/N) | Baseline (group) | EoS/ last visit | Baseline | EoS/ last visit | Baseline | EoS/ last visit | Type | Nucleotide change | Amino acid substitution |
Patient A | 3.1 | Y | 1 (M0) | Enrolled in 094 study | Y | 66 (≤ 70) | N/A | 71 | N/A | 64 | N/A | Missense | c.1402C > T | p.R468W |
Patient B | 3.4 | Y | 1 (M0) | Enrolled in 094 study | Y | 94 (> 70) | N/A | 85 | N/A | 104 | N/A | Large deletion | Deletion of exons 1–8 | – |
Patient C | 10.1 | Y | 1 (M0) | Withdrew from study | N | 79 (> 70) | N/A | 84 | N/A | 86 | N/A | Nonsense | c.36G > A | p.W12X |
Patient D | 7 | Y | 1 (M0) | Enrolled in 094 study | Y | 65 (≤ 70) | N/A | 74 | N/A | 63 | N/A | Nonsense | c.1186C > T | p.Q396X |
Patient E | 4.4 | Y | 1 (M0) | Enrolled in 094 study | Y | 43 (≤ 70) | N/A | 78 | N/A | 59 | N/A | Missense | c.686A > G | p.H229R |
Patient F | 3.4 | Y | 1 (M3) | Enrolled in 094 study | Y | 83 (> 70) | 66 | 92 | 74 | 76 | 86 | Missense | c.1472C > T | p.S491F |
Patient G | 2.4 | Y | 1 (M3) | Enrolled in 094 study | Y | Missing | 83 | Missing | 83 | Missing | 87 | Missense | c.685C > T | p.H229Y |
Patient H | 4.1 | Y | 1 (M3) | Enrolled in 094 study | Y | 63 (≤ 70) | 75 | 96 | 83 | 85 | 94 | Complete deletion/large rearrangement | – | – |
Patient I | 12.4 | Y | 1 (M6) | Noncompliance | N | 91 (> 70) | 77 | 92 | 80 | 92 | 89 | Intronic | c.1181-1G > C | – |
Patient J | 3.9 | Y | 1 (M6) | Enrolled in 094 study | Y | 64 (≤ 70) | 64 | 75 | 87 | 79 | 69 | Nonsense | c.1093G > T | p.G365X |
Patient K | 5.2 | Y | 1 (M6) | Withdrew from study | N | Missing | 47 | 68 | 63 | 69 | 65 | Missense | c.998C > T | p.S333L |
Patient L | 2.2 | Y | 1 (M6) | Enrolled in 094 study | Y | Missing | 78 | Missing | 86 | Missing | 72 | Missense | c.1403G > C | p.R468P |
Patient M | 2.3 | Y | 1 (M12) | Enrolled in 094 study | Y | Missing | 104 | Missing | 107 | Missing | 100 | Frameshift | c.993delT | p.F331fsX8 |
Patient N | 6.5 | Y | 1 (M9) | Enrolled in 094 study | Y | 60 (≤ 70) | 67 | 79 | 100 | 85 | 87 | Missense | c.134A > G | p.D45G |
Patient O | 3.7 | Y | 1 (M9) | Enrolled in 094 study | Y | 68 (≤ 70) | 63 | 88 | 86 | 68 | 57 | Splice site | c.1122C > T | p.G374G |
Patient P | 4.9 | Y | 1 (M9) | Lost to follow-up | N | 59 (≤ 70) | 37 | 70 | 55 | 63 | 39 | Missense | c.1025A > C | p.H342P |
Patient Q | 3.5 | Y | 1 (M9) | Enrolled in 094 study | Y | Missing | 55 | Missing | 84 | Missing | 54 | Missense | c.1400C > T | p.P467L |
Patient R | 2.3 | Y | 1 (M9) | Enrolled in 094 study | Y | Missing | 86 | Missing | 81 | Missing | 94 | Missense | c.283A > G | p.R95G |
Patient S | 3 | Y | 1 (M9) | Enrolled in 094 study | Y | 82 (> 70) | 52 | 88 | 71 | 79 | 90 | Unclassifiableb | c.785delCb | – |
Patient T | 8.1 | Y | 1 (M9) | Withdrew from study | N | 55 (≤ 70) | 71 | 74 | 79 | 45 | 77 | Missense | c.1403G > A | p.R468Q |
Patient U | 3.3 | Y | 1 (M12) | Enrolled in 094 study | Y | 87 (> 70) | 77 | 84 | 105 | 93 | 92 | Missense | c.1403G > A | p.R468Q |
Patient V | 2.9 | Y | 1 (M12) | Enrolled in 094 study | Y | 95 (> 70) | 74 | 85 | 71 | 105 | 108 | Frameshift | c.542insA | p.N181fsX17 |
Patient W | 5.1 | Y | 1 (M12) | Enrolled in 094 study | Y | 56 (≤ 70) | 45 | 77 | 64 | 70 | 57 | Missense | c.1504T > G | p.W502G |
Patient X | 3.3 | Y | 1 (M12) | Screened for 094 study | N | 90 (> 70) | 88 | 90 | 102 | 90 | 93 | Missense | c.1504T > G | p.W502G |
Patient Y | 4 | Y | 2 (M15) | Enrolled in 094 study | Y | 96 (> 70) | 104 | 98 | 118 | 114 | 117 | Missense | c.134A > G | p.D45G |
Patient Z | 3.4 | Y | 2 (M15) | Enrolled in 094 study | Y | 89 (> 70) | 80 | 87 | 116 | 92 | 79 | Intronic | c.709-2A > G | – |
Patient AA | 2.9 | Y | 2 (M15) | Enrolled in 094 study | Y | 92 (> 70) | 79 | 91 | 89 | 93 | 96 | Missense | c.1402C > T | p.R468W |
Patient AB | 7.3 | Y | 2 (M15) | Lost to follow-up | N | 122 (> 70) | 128 | 112 | 112 | 101 | 136 | Missense | c.425C > T | p.S142F |
Patient AC | 2.1 | Y | 2 (M21) | Enrolled in 094 study | Y | Missing | 61 | Missing | 79 | Missing | 60 | Frameshift | c.1091delC | p.P364fsX26 |
Patient AD | 5.7 | Y | 2 (M21) | Screened for 094 study | N | 55 (≤ 70) | 56 | 69 | 64 | 54 | 55 | Missense | c.262C > T | p.R88C |
Patient AE | 2 | Y | 2 (M21) | Withdrew from study | Y | Missing | 87 | Missing | 88 | Missing | 96 | Missense | c.998C > T | p.S333L |
Patient AF | 2.4 | Y | Missing | Enrolled in 094 study | Y | Missing | Missing | Missing | Missing | Missing | Missing | Frameshift | c.1381_1384 dupATTG | p.A462fsX3 |
Patient AG | 5.5 | N | N/A | N/A | N | 88 (> 70) | 111 | 112 | 140 | 98 | 93 | Missense | c.1400C > G | p.P467R |
Patient AH | 4 | N | N/A | N/A | N | 110 (> 70) | 104 | 121 | 116 | 104 | 100 | Missense | c.1568A > G | p.Y523C |
Patient AI | 4.8 | N | N/A | N/A | N | 113 (> 70) | 102 | 115 | 95 | 106 | 99 | Missense | c.1406C > T | p.P469L |
Patient AJ | 4.9 | N | N/A | N/A | N | 59 (≤ 70) | 33 | 73 | 32 | 73 | 45 | Missense | c.257C > T | p.P86L |
Patient AK | 3.7 | N | N/A | N/A | N | 70 (≤ 70) | 34 | 81 | 47 | 85 | 36 | Missense | c.257C > T | p.P86L |
Patient AL | 8.9 | N | N/A | N/A | N | 81 (> 70) | 87 | 90 | 89 | 80 | 86 | Missense | c.329G > A | p.R110K |
Patient AM | 6.2 | N | N/A | N/A | N | 62 (≤ 70) | 66 | 77 | 85 | 71 | 75 | Intronic | c.879 + 1G > T | – |
Patient AN | 6.2 | N | N/A | N/A | N | 102 (> 70) | 108 | 87 | 91 | 99 | 122 | Splice site | c.1122C > T | p.G374G |
Patient AO | 5.8 | N | N/A | N/A | Y | 90 (> 70) | 88 | 93 | 88 | 96 | 87 | Missense | c.239A > G | p.Q80R |
Patient AP | 12.8 | N | N/A | N/A | N | Missing | 92 | Missing | 94 | 83 | 81 | Splice site | c.1122C > T | p.G374G |
Patient AQ | 15.4 | N | N/A | N/A | N | 98 (> 70) | 94 | 94 | 103 | 89 | 103 | Missense | c.281G > A | p.G94D |
Patient AR | 16.7 | N | N/A | N/A | N | 79 (> 70) | 82 | 82 | 90 | 81 | 87 | Splice site | c.1122C > T | p.G374G |
Patient AS | 7.9 | N | N/A | N/A | N | 81 (> 70) | 74 | 85 | 86 | 77 | 65 | Missense | c.1387T > C | p.Y463H |
Patient AT | 4.3 | N | N/A | N/A | N | Missing | 38 | Missing | 62 | Missing | 31 | Missense | c.283A > G | p.R95G |
Patient AU | 6.4 | N | N/A | N/A | N | 104 (> 70) | 105 | 110 | 107 | 71 | 93 | Missense | c.253G > A | p.A85T |
Patient AV | 3.4 | N | N/A | N/A | N | 105 (> 70) | 118 | 105 | 121 | 104 | 122 | Missense | c.824A > T | p.D275V |
Patient AW | 4 | N | N/A | N/A | N | 48 (≤ 70) | 37 | 61 | 49 | 69 | 41 | Intronic | c.708 + 1G > A | – |
Patient AX | 7 | N | N/A | N/A | N | 86 (> 70) | 78 | 78 | 78 | 83 | 73 | Splice site | c.1122C > T | p.G374G |
Patient AY | 5.4 | N | N/A | N/A | N | 53 (≤ 70) | 40 | 79 | 54 | 50 | 36 | Missense | c.998C > T | p.S333L |
Patient AZ | 5.4 | N | N/A | N/A | N | 75 (> 70) | 74 | 103 | 80 | 69 | 43 | Intronic | c.1181-1G > A | – |
Patient BA | 7.9 | N | N/A | N/A | N | 72 (> 70) | 71 | 96 | 93 | 46 | 38 | Missense | c.592G > A | p.D198N |
Patient BB | 12.1 | N | N/A | N/A | N | 56 (≤ 70) | 52 | 60 | 53 | 47 | 38 | Nonsense | c.1327C > T | p.R443X |
Patient BC | 9 | N | N/A | N/A | N | 65 (≤ 70) | 66 | 61 | 69 | 73 | 63 | Nonsense | c.1327C > T | p.R443X |