Summary of SOX10 mutations identified and phenotypes of affected patients
| Sex | SOX10 mutation | Effect on protein sequence | Affected colon phenotype | Reference |
| F | nt168delG | Frameshift→truncation before HMG | Short segment HSCR | This study (patient 1) |
| M | Y83X (C→A at nt249) | Truncation before HMG domain | Hypoganglionosis2-150 | 14(family 2) |
| NA | nt482ins6 | Duplication of LR in HMG domain | Short segment HSCR | 14 (family 3) |
| NA | E189X (G→T at nt565) | Truncation after HMG domain | Short segment HSCR | 14(family 1) |
| M | Y207X | Truncation after HMG domain | Short segment HSCR | 13 (family 140) |
| M | S251X (C→A at nt752) | Truncation after HMG domain | Total colonic aganglionosis | 16 (family 3) |
| M | Y313X (C→A at nt939) | Truncation after HMG domain | Short segment HSCR | 16(family 2) |
| M | Y313X (C→A at nt939) | Truncation after HMG domain | Total colonic aganglionosis | 16 (family 1) |
| M | nt1076delGA | Frameshift→37aa added at 359 | NA | 14(family 4) |
| M | Q377X | Truncation of C-terminal domain | Variable diagnosis, ranging from hypoganglionosis to long segment HSCR | 13 (family 192) |
| F | nt1400del12 (X467C) | 82aa added at stop codon | Long segment HSCR | 15 |
| M | X467K | 86aa added at stop codon | Total colonic aganglionosis | This study (patient 2) |
NA: data not available from the reference.
↵2-150 Hypoganglionosis was based on description cited in the reference.