Table 1

Constitution and overall molecular diagnostic yield of the two cohorts

Chinese cohortUS cohort
SubgroupCSNMSSyndromicIEOSOverallIEOS
Number of patients424581044713
Age of onset (years), mean3.13.22.83.13.11.5
Male (%)202/424 (47.6)2/56/86/10217/447 (48.5)7/13
TACS rate (%)41/424 (9.7)00041/447 (9.2)0
SNV/indel-positive rate (%)*35/424 (8.2)3/57/82/1047/447 (10.5)1
CNV-positive rate (%)*4/424 (0.9)01/705/447 (1.1)0
Overall diagnostic rate (%)79/424 (18.6)3/58/82/1092/447 (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.