Table 2

Genetic architecture and disease trait of EOS revealed by exome sequencing

Disease traitCSNMSSyndromic EOSIEOSOverall
CS ICS IICS III
Autosomal dominant RUNX2 (2)*, JAG1 (1), FLNB (1), COMP (1) RYR1 (2)*, MYH3 (1), POGZ (1), FBN1 (1), SOX9 (1), MYH7 (1) TCF12 (1), PTPN11 (1), COL11A1 (1), SUFU (1), MYH3 (1), CELSR1 (1), TRPV4 (2), MMP13 (1), COL5A2 (1), BMP2 (1), CHD7 (2)* LMNA (1), RYR1 (1) NF1 (3)*, FGFR3 (3)* COL5A2 (1), COMP (1)34
Autosomal recessive PLOD1 (1), DDR2 (1), DCHS1 (1) FLNB (1), B3GALT6 (1) FLNB (1), HERC1 (1), COL27A1 (1) TTN (1) PLOD1 (1)010
X-linked FLNA (1), EBP (1)0 ZC4H2 (1)0003
  • The bold font indicates de novo changes.

  • *One of two RUNX2 variants arose de novo; one of two CHD7 variants arose de novo; one of two RYR1 variants arose de novo; two of three NF1 variants arose de novo; and two of three FGFR3 variants arose de novo.

  • CS I, congenital scoliosis type I, vertebral malformations; CS II, congenital scoliosis type II, segmentation defects; CS III, congenital scoliosis type III, mixed type; EOS, early-onset scoliosis; IEOS, idiopathic early-onset scoliosis; NMS, neuromuscular scoliosis.