Genetic architecture and disease trait of EOS revealed by exome sequencing
| Disease trait | CS | NMS | Syndromic EOS | IEOS | Overall | ||
| CS I | CS II | CS 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) | 0 | 10 |
| X-linked | FLNA (1), EBP (1) | 0 | ZC4H2 (1) | 0 | 0 | 0 | 3 |
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.