Table 1.
Individuals with FMR1 gene deletions in mosaicism.
| Sex | Clinical Features | Percentage in Blood | Genomic Coordinates (hg38) | Size | Genes Included | Ref |
|---|---|---|---|---|---|---|
| Male | Seizures, learning and behavioral difficulties | 40% | X:147911457–147912135 | 678 bp |
FMR1 promotor |
[12] |
| Male | Mild ID | 90% | X:147158486–148171878 | ~1 Mb | FMR1, FMR1-AS1 | [13] |
| Male | FXS with a milder cognitive impairement and FXTAS | NP | NP | ~2.5 Kb | ~80 bp of the FMR1 promotor and the entire CGG repeat | [14] |
| Female | Unaffected | Undetected | NP | NP | FMR1 | [15] |
| Female | Unaffected | 0.4% | NP * | ~45 Kb | FMR1 | [16] |
| Female | Unaffected | 0.75% | X:147653688–147955394 | ~300 Kb | FMR1, FMR1-AS1 | [17] |
| Female | Unaffected | 40% | X:146990647–147058715 | ~70 Kb | FMR1, FMR1-AS1 | I.1 |
* Proximal: 5 kb upstream the FMR1 gene; distal: 194 kb downstream the FMR1 gene. NP: not provided.