Constitution and overall molecular diagnostic yield of the two cohorts
| Chinese cohort | US cohort | |||||
| Subgroup | CS | NMS | Syndromic | IEOS | Overall | IEOS |
| Number of patients | 424 | 5 | 8 | 10 | 447 | 13 |
| Age of onset (years), mean | 3.1 | 3.2 | 2.8 | 3.1 | 3.1 | 1.5 |
| Male (%) | 202/424 (47.6) | 2/5 | 6/8 | 6/10 | 217/447 (48.5) | 7/13 |
| TACS rate (%) | 41/424 (9.7) | 0 | 0 | 0 | 41/447 (9.2) | 0 |
| SNV/indel-positive rate (%)* | 35/424 (8.2) | 3/5 | 7/8 | 2/10 | 47/447 (10.5) | 1 |
| CNV-positive rate (%)* | 4/424 (0.9) | 0 | 1/7 | 0 | 5/447 (1.1) | 0 |
| Overall diagnostic rate (%) | 79/424 (18.6) | 3/5 | 8/8 | 2/10 | 92/447 (20.6) | 1/13 |
*Patients diagnosed as TACS are not counted in calculating the positive rate for the SNV/indel and the CNV.
CNV, copy number variation; CS, congenital scoliosis; IEOS, idiopathic early-onset scoliosis; NMS, neuromuscular scoliosis; SNV, single-nucleotide variant; TACS, TBX6-associated scoliosis.