Table 1.
Methylation levels at IC1 and IC2 in controls, BWS LOM patients and IC2 deletion family members. Normal range for IC1 is 45–55% and for IC2 is 46–54% as per reported error rate
| Sample type | IC1% | IC2% | Deletion carrier | |
|---|---|---|---|---|
| Control1 | BLOOD | 49.49 | 51.43 | N/A |
| Control2 | SKIN | 49.85 | 50.27 | N/A |
| Control3 | SKIN | 50.55 | 50.72 | N/A |
| BWS LOM1 | BLOOD | 50.91 | 2.43 | N/A |
| BWS LOM2 | BLOOD | 48.16 | 0.05 | N/A |
| BWS LOM3 | BLOOD | 48.36 | 0.05 | N/A |
| BWS LOM3 | AMNIOCYTES | 53.13 | 2.78 | N/A |
| BWS LOM4 | PLACENTA | 50.00 | 0.02 | N/A |
| BWS LOM5 | AMNIOCYTES | 49.03 | 22.54 | N/A |
| Familial deletion I-4 | BLOOD | 51.04 | 50.87 | Likely germline mosaic |
| Familial deletion II-6 | BLOOD | 52.49 | 51.01 | No |
| Familial deletion II-7 | BLOOD | 49.55 | 50.87 | Yes |
| Familial deletion II-10 | BLOOD | 51.04 | 50.54 | Yes |
| Familial deletion II-11 | BLOOD | 49.39 | 50.44 | No |
| Familial deletion III-2 | BLOOD | 43.73 | 50.36 | No |
| Familial deletion III-3 | BLOOD | 51.01 | 0.01 | Yes |
| Familial deletion III-3 | AMNIOCYTES | 49.12 | 0.04 | Yes |
| Familial deletion III-14 | SKIN | 51.52 | 0.01 | Yes |
| Familial deletion III-14 | PLACENTA | 51.86 | 0.01 | Yes |