Table 4.
Molecular approaches to investigate the clonality of cell cultures from three RTT patients (1, 2 and 3) show discordant results between RT-PCR and XCI analysis. XCI* represents the number of clones showing a total skewed X-chromosome inactivation. For all clones showing no discrepancy between RT-PCR and XCI, immunochemistry confirmed these results
| Patient | Age (years old) | Nucleotide change | AA change | Potential clonal cultures | cDNA Sequencing analysis | XCI | |||
|---|---|---|---|---|---|---|---|---|---|
| Wild-type | Mutated | Both | Wild-type | Mutated | |||||
| 1 | 9 | c.C763T | p.R255X | 17 | 5 | 12 | 0 | 1/5 (20%) | 5/12 (42%) |
| 2 | 9 | c.C808T | p.R270X | 24 | 18 | 4 | 2 | 3/18 (17%) | 2/4 (50%) |
| 3 | 8 | c.1156del41 | p.L386HfsX390 | 15 | 3 | 5 | 7 | 2/3 (67%) | 4/5 (80%) |