Table 1.
Table shows demographic information, mutation category, and molecular outcome measures for the cases included in this study.
| Case | Gender | Age | Category | IQ | IQ test | # Clinical measures | PBMCs | Fibroblasts | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CGG size | % Meth | AR | FMR1 mRNA (Std. Err) | FMRP | CGG size | % Meth | AR | FMR1 mRNA (Std. Err) | FMRP | |||||||
| 1 | F | 13 | FM | 72 | Binet | 3 | 29, 570, 710, 1050 | 0.68 | 0.61 (0.10) | 0.031 | 29, 570, 710, 1050 | 0.3 | 0.16 (0.01) | 0.025 | ||
| 2 | F | 15 | FM | 83 | SB-5 | N/A | 30, 450, 650 | 0.82 | 1.06 (0.09) | 0.080 | 30, 450, 650 | 0.52 | 0.30 (0.01) | 0.300 | ||
| 3 | F | 61 | FM | 69 | SB-5 | N/A | 31, 430, 670 | 0.85 | 1.86 (0.08) | 0.075 | 21, 680 | 0.4 | 0.28 (0.01) | 0.645 | ||
| 4 | F | 26 | FM/ MM | 80 | WISC | 1 | 27, 320–850 (UM smear) | >95 | 0.46 | 5.75 (0.01) | N/A | 27, 720, 940, 1060, 1400 (140) | 54 | 0.55 | N/A | N/A |
| 5 | M | 30 | FM | 55 | WAIS-III | 5 | 370 | 100 | 0.04 (0.00) | 0.0 | 370 | 100 | 0.002 (0.00) | 0.010 | ||
| 6 | M | 26 | FM/ MM | 51 | WAIS-III | 5 | 270, 390, 720 (UM smear) | >95 | 0.20 (0.01) | 0.002 | 290, 540, 790 (UM smear) | >95 | 0.06 (0.01) | 0.040 | ||
| 7 | M | 26 | FM | 54 | SB-5 | N/A | 490, 680, 960 | 100 | 0.03 (0.01) | 0.0 | 500, 820, 960 | 100 | 0.00 | 0.00 | ||
| 8 | M | 32 | FM/ SM | 63 | WAIS-III | N/A | 510, 590, 670, 810 (66) | 76 | 0.45 (0.09) | 0.027 | 510, 590, 670, 810 | 100 | N/A | N/A | ||
| 9 | M | 61 | FM/ MM | 64 | WAIS-III | 1 | 250 (UM smear) | >95 | 1.24 (0.08) | 0.003 | 250 (UM smear) | >95 | 0.29 (1.00) | 0.070 | ||
| 10 | M | 73 | FM/ SM | 40 | SB-5 | N/A | 290 (80–245) | 40 | 2.03 (0.06) | 0.024 | 290 (200–250) | 78 | 0.28 (0.02) | 0.141 | ||
| 11 | M | 32 | FM/ MM | 45 | Weschler | N/A | 610 (260–450) | 74 | 0.39 (0.03) | 0.003 | 425, 580, 680 (210–280) | 79 | 0.58 (0.06) | 0.199 | ||
| 12 | M | 25 | FM/ MM | 55 | WASI | 2 | 345, 450, 650 (215) | 68 | 1.97 (0.08) | 0.009 | 235, 350, 650 (UM smear) | 82 | 0.17 (0.02) | 0.067 | ||
| 13 | M | 16 | FM/ SM | 73 | WPPSI-III | 4 | 500, 820, 980, 1100 (150–230) | 90 | 1.12 (0.28) | N/A | 390, 490, 950, 1140 (160–230) | 94 | 0.16 (0.01) | 0.147 | ||
| 14 | M | 58 | FM/ SM | 64 | WAIS-III | 3 | 180 (30–260) | 37 | 2.19 (0.01) | 0.018 | 200 (250–760) | 21 | 0.29 (0.06) | 0.224 | ||
| 15 | M | 15 | FM/ SM | 63 | SB | 5 | 230 (30–570) | 7 | 2.93 (0.11) | 0.025 | 255 (260–380) | 12 | 1.83 (0.22) | 0.404 | ||
| 16 | M | 16 | FM/ SM | 72 | SB | 3 | 230, 330 (30–270) | 14 | 2.57 (0.14) | 0.010 | 230, 330 (30–200) | 18 | 0.96 (0.02) | 0.394 | ||
| 17 | M | 25 | FM/ SM | 79 | WAIS-III | 4 | 440 (65) | <5 | 2.29 (0.08) | 0.075 | 190, 220, 400, 500, 800 (65) | 49 | 0.77 (0.04) | 0.453 | ||
| 18 | M | 29 | FM/ MM | 117 | WAIS-III | 3 | 180 (210–420) | 7 | 3.85 (0.43) | 0.019 | 180 (200–270) | 16 | 1.32 (0.02) | 0.474 | ||
FM, full mutation; FM/MM, full mutation methylation mosaic; FM/SM, full mutation size mosaic; UM, unmethylated; N/A, non available.