Table 1.
CGG expansion and methylation status in different tissues.
| Leucocytes |
Buccal smear |
Fibroblasts |
Lymphoblastoid cell lines |
|||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Sample | Phenotype | CGG repeats | Methylation (%) | CGG repeats | Methylation (%) | CGG repeats | Methylation (%) | CGG repeats | Methylation (%) | |
| Family 1 | CTRL 4 | Non-affected | 32 | 7 | n.a. | n.a. | n.a. | n.a. | 32 | 17 |
| Case 1 | FXS-like | 170 | 100 | 169 | 100 | 136 | 100 | 134 | 6 | |
| 193 | 3 | 160 | 9 | 159 | 7 | |||||
| >200 | 8 | 172 | 5 | 168 | 100 | |||||
| 187 | 6 | 198 | 8 | |||||||
| 198 | 13 | >200 | 8–13 | |||||||
| FXS 1 | FXS | >200 | 100 | >200 | 100 | n.a. | n.a. | >200 | 100 | |
| Family 2 | Case 2 | FXS-like | 108 | 2 | 109 | 24 | 114 | 7 | 111 | 15 |
| 139 | 4 | 123 | 100 | 137 | 12 | |||||
| 143 | 15 | |||||||||
| FXS 2 | FXS | >200 | 80–100 | 135 | 100 | n.a. | n.a. | >200 | 100 | |
| >200 | 44 | |||||||||
| Unrelated controls | CTRL 1 | Control | 30 | 2 | n.a. | n.a. | n.a. | |||
| CTRL 2 | Control | 29 | 14 | 29 | 6 | n.a. | n.a. | |||
| CTRL 3 | Control | n.a. | n.a. | n.a. | 30 | 6 | ||||
| CTRL 5 | Control | n.a. | n.a. | n.a. | 32 | 3 | ||||
| CTRL 6 | Control | n.a. | n.a. | n.a. | 29 | 9 | ||||
| CTRL 7 | Control | n.a. | n.a. | n.a. | 0 | n.a. | n.a. | |||
| CTRL 8 | Control | n.a. | n.a. | n.a. | 0 | n.a. | n.a. | |||
| Unrelated FXS | FXS 3∗ | FXS | n.a. | n.a. | 500 | 100 | n.a. | n.a. | ||
The table reports 2 families with FXS individuals (FXS 1 and FXS 2), FXS-like individuals (Case 1 and Case 2), non-affected control of family 1 (CTRL4), and 7 unrelated unaffected individuals (CTRL 1, 2, 3, 5, 6, 7, 8). The FMR1 alleles were detected by DNA analysis from whole blood, lymphoblastoid cell lines, buccal smears, and fibroblasts. For each tissue, the CGG triplet expansion and the methylation status (%) are listed. n.a.: non-available data. ∗FXS unrelated individual (84E0275), see Jacquemont et al. (2018).