Table 2. Molecular features of patients with microdeletion encompassing the 2q23.1 region.
Map positions refer to the Genome Assembly May 2004. Proximal breakpoints are localised in the region between the end of the last non-deleted BAC or probe before the deletion and the start of the first deleted BAC (start clone) or probe. Distal breakpoints are localised in the region between the end of the last deleted BAC (end clone) or probe and the start of the first non-deleted BAC or probe after the deletion. For BAC-arrays, the minimal size of copy number changes is calculated from the start of the first clone to the end of the last clone with decreased ratios.
| Patient 1 This study |
Patient 2 This study |
Patient 3 Vissers et al., 2003 Koolen et al., 2004 |
Patient 4 De Vries et al., 2005 |
Patient 5 De Gregori et al., 2007 |
|
|---|---|---|---|---|---|
| Deleted region | 2q23.1 | 2q22.3-q23.1 | 2q22.3-q23.2 | 2q23.1-q23.2 | 2q22.3-q23.1 |
| Array method | Oligo-array, Agilent 4×44K | BAC-array, 3172 clones | BAC array, 3569 clones | BAC-array, 32 447 clones | Oligo-array, Agilent 244 K |
| Breakpoints of imbalance | |||||
| -region of proximal breakpoint | RP11-379G6/RP11-548K13 | RP11-67J2/RP11-89L3 | |||
| 148.836–149.062 | 145.268–146.891 | 145.410–146.734 | 149.17 (start clone) | 148.14–148.18 | |
| -region of distal breakpoint | RP11-659J19/RP11-62P16 | RP11-72H23/RP11-79A11 | |||
| 149.319–149.362 | 149.268–150.720 | 148.694–151.147 | 150.09 (end clone) | 149.32–149.33 | |
| Deletion minimal size (kb) | ~250 | ~2 400 | ~2 000 | ~920 | ~1 100 |
| Candidate genes | ACVR2A | ACVR2A | ACVR2A | ||
| ORC4L | ORC4L | ORC4L | |||
| MBD5 | MBD5 | MBD5 | MBD5 | MBD5 | |
| EPC2 | EPC2 | EPC2 | EPC2 | EPC2 | |
| KIF5C | KIF5C | ||||