Mitigating effect of mosaicism on the nonsense mutation 586C>T in exon 6 of the NF2 gene
| GUS24405 with mosaic 568C>T | GUS28165 with mosaic 568C>T | 5 non-mosaic cases with 568C>T19 | Survey of 63 unselected NF2 cases2 | |
|---|---|---|---|---|
| Age first symptom | 43 | 29 | 10.2 | 20.3 |
| Age hearing loss | 67 | 31 | 13.5 | 25.7 |
| Age diagnosis | 67 | 59 | 14.2 | 28.3 |
| Family history | No | No | 0% | 73% |
| Meningioma | Yes | Yes | 80% | 49% |
| Spinal cord tumour | Yes | Yes | 100% | 67% |