Demographic data of the severe scoliosis and control groups
n | Severe group | Control group | P value* | |
Number of patients | 278 | 57 | 221 | |
Age at X-ray (range) | N/A | 33.7 (15–79) | N/A | |
Sex (male:female) | 135:143 | 20:37 | 115:106 | 0.03 |
Cobb angle (°), mean (SD) | N/A | 17.3 (12.7) | N/A | |
Type of FBN1 variants | 0.03 | |||
PTV (%) | 132 | 35 (26.5) | 97 (73.5) | |
PTC-creating variants (%) | 97 | 25 (25.8) | 72 (74.2) | |
Inframe exon-skipping (%) | 35 | 10 (28.6) | 25 (71.4) | |
Non-PTV (%) | 146 | 22 (15.1) | 124 (84.9) | |
Non-PTV affecting Cys residues (%) | 112/146 | 16/22 (72.7) | 96/124 (77.4) | 0.60 |
*P<0.05.
Cys, cysteine; N/A, not applicable; PTC, premature termination codon; PTV, protein-truncating variant.