Table 1.
Overview of the confirmed rare folate-sensitive fragile sites and their associated CGG-repeats.
| Fragile site | Gene | Region | Cohort polymorphism | Reference units | Median units | Minimum units | Maximum units |
|---|---|---|---|---|---|---|---|
| FRA2A | AFF3 | Intronic | 95%* | 12 | 16 | 1 | 64 |
| 99% | 4 | 15 | 1 | 43 | |||
| 5′-UTR | 12% | 8 | 9 | 4 | 47 | ||
| FRA7A | ZNF713 | * 5′-UTR | 81% | 12 | 13 | 5 | 53 |
| Intronic | 92% | 21 | 18 | 1 | 53 | ||
| FRA10A | FRA10AC1 | 5′-UTR | 72% | 8 | 9 | 5 | 115 |
| FRA11A | C11orf80 | Exonic | 48% | 8 | 10 | 4 | 62 |
| FRA11B | CBL | 5′-UTR | 88% | 11 | 13 | 6 | 52 |
| FRA12A | DIP2B | 5′-UTR | 97% | 12 | 14 | 8 | 120 |
| FRA16A | XYLT1 | Upstream | 95% | 4 | 43 | 1 | 83 |
| FRAXA | FMR1 | 5′-UTR | 100% | 20 | 28 | 4 | 52 |
| FRAXE | AFF2 | 5′-UTR | 77%* | 28 | 30 | 1 | 59 |
| 34% | 4 | 5 | 5 | 55 | |||
| FRAXF | TMEM185A | 5′-UTR | 61% | 10 | 12 | 3 | 55 |
*In the case of multiple repeats, the repeat indicated as causative of the associated folate sensitive fragile site.