Molecular studies on patients with Rubinstein-Taybi syndrome
| References | Patients investigated | Microdeletion (1-5 cosmids) | 5 cosmids tested |
Microdeletion (5 cosmids) | Non 3′ deletion (RT1/RT100 not deleted) | Presented in fig1B | Translocation |
PTT (entire CBP) | Truncated CBP | |||
| Breuning et al 4 | 24 | 6 | 25.0% | — | — | — | — | 5 | (12) | — | ||
| Masuno et al 8 | 25 | 1 | 4.0 | — | — | — | — | 1 | — | — | ||
| McGaughan et al 9 | 16 | 2 | 12.5 | — | — | — | — | — | — | — | ||
| Wallerstein et al 10 | 64 | 7 | 10.9 | — | — | — | — | 4 | t(1;16) | — | — | |
| Taine et al 11 | 30 | 3 | 10.0 | — | — | — | — | — | — | — | ||
| Published microdeletions | 159 | 19 | 12.0 | — | — | — | — | 10 | — | — | ||
| Present study | ||||||||||||
| Blough et al 18 | 66 | 5 | 7.6% | 66 | 5 | 7.6% | 2 | 5 | (14) | — | ||
| Unique to this paper | 105 | 9 | 8.6 | 23 | 3 | 13.0 | 2 | 6 | — | — | ||
| Microdeletions in this study | 171 | 14 | 8.2 | 89 | 8 | 9.0 | 4 | 11 | — | — | ||
| Microdeletions total | 330 | 33 | 10.0 | 89 | 8 | 9.0 | 4 | 21 | — | — | ||
| Petrij et al 5 | 162-150 | — | — | — | — | — | — | — | t(2;16) | 16 | 2 | 12.5% |
| Blough et al 18 | 662-151 | — | — | — | — | — | — | — | 14 | 0 | 0.0 | |
| Unique to this paper | — | — | — | — | — | — | — | — | 7 | 2 | 28.6 | |
| PTT total | — | — | — | — | — | — | — | — | 37 | 4 | 10.8 | |
In total we report on mutation analysis of 194 RTS patients; 157 were tested with FISH, 23 with PTT, and 14 with both techniques.
↵2-150 16 non-microdeletion cases, including 12 from Breuninget al,4 were investigated for only the first 1.2 kb of the CBP transcript by PTT.
↵2-151 Blough et al found 5/66 microdeletions by FISH; of the remaining 61 cases, 14 were investigated by PTT.