Table 2

Demographic data of the severe scoliosis and control groups

nSevere groupControl groupP value*
Number of patients27857221
Age at X-ray (range)N/A33.7 (15–79)N/A
Sex (male:female)135:14320:37115:1060.03
Cobb angle (°), mean (SD)N/A17.3 (12.7)N/A
Type of FBN1 variants0.03
 PTV (%)13235 (26.5)97 (73.5)
  PTC-creating variants (%)9725 (25.8)72 (74.2)
  Inframe exon-skipping (%)3510 (28.6)25 (71.4)
 Non-PTV (%)14622 (15.1)124 (84.9)
  Non-PTV affecting Cys residues (%)112/14616/22 (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.