Details of seven cases with exonic CNVs of FBN1
| Number | Sex | Deleted exons | Type of FBN1 variants | Affected ‘hot spot’ | Severe scoliosis or control | Surgery | Cobb angle |
| 329 | Male | 20 | PTV | No | Control | No | 13 |
| 330 | Female | 64–66 | PTV | C-terminal region | Severe | Yes | 84* |
| 331 | Male | 23–25 | PTV | Neonatal region | Severe | Yes | 80* |
| 332 | Female | 3 | PTV | No | Severe | No | 80 |
| 333 | Male | 39–40 | PTV | No | Severe | Yes | 57* |
| 334 | Male | 51–63 | PTV | Exons 55–56 | Control | No | 9 |
| 335 | Male | 1–66 | PTV | No | Severe | Yes | 93* |
*In cases of surgery, the Cobb angle prior to surgery is provided.
PTV, protein-truncating variant.