Key Table.
Currently known SOXopathies and types of mutations involved
| Group | Gene | Disease | Type of mutations | ||||||
|---|---|---|---|---|---|---|---|---|---|
| T | Del | Dup | Inv | Ms | Ns/Fs | ||||
| HMG | Other | ||||||||
| SOXA | SRY | Disorder of sex development (DSD) | ✓ | ✓ | - | - | ✓ | ✓ | ✓ |
| SOXB1 | SOX1 | - | - | - | - | - | - | - | - |
| SOX2 | Anophthalmia/microphthalmia syndrome | - | ✓ | - | - | ✓ | ✓ | ✓ | |
| SOX3 | Mental retardation with panhypopituitarism, X-linked | - | - | ✓ | ✓ | ✓ | ✓ | - | |
| Septo-optic dysplasia (SOD) syndrome | - | - | ✓ | - | - | ✓ | - | ||
| XX male sex reversal | ✓ | ✓ | ✓ | - | - | - | - | ||
| SOXB2 | SOX14 | - | - | - | - | - | - | - | - |
| SOX21 | - | - | - | - | - | - | - | - | |
| SOXC | SOX4 | Neurodevelopmental syndrome with mild dysmorphism | - | - | - | - | ✓ | - | - |
| SOX11 | Coffin-Siris syndrome-like syndrome (CSSLS) | - | ✓ | - | - | ✓ | - | ✓ | |
| SOX12 | - | - | - | - | - | - | - | - | |
| SOXD | SOX5 | Lamb-Shaffer syndrome | ✓ | ✓ | - | - | - | - | ✓ |
| SOX6 | [Craniosynostosis and craniofacial dysostosis] | ✓ | - | - | - | - | ✓ | - | |
| SOX13 | - | - | - | - | - | - | - | - | |
| SOXE | SOX8 | [Alpha-thalassemia/mental retardation syndrome (ATR-16)] | - | ✓ | - | - | - | - | - |
| Disorder of sex development (DSD) | - | - | ✓ | ✓ | ✓ | ✓ | ✓ | ||
| SOX9 | Campomelic dysplasia (CD) | ✓ | ✓ | - | ✓ | ✓ | ✓ | ✓ | |
| Acampomelic dysplasia (ACD) | ✓ | ✓ | - | - | ✓ | ✓ | - | ||
| Disorder of sex development (DSD) | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ✓ | ||
| Isolated Pierre Robin Sequence (PRS) | ✓ | ✓ | - | - | - | - | - | ||
| SOX10 | Waardenburg-Hirschsprung syndrome | - | ✓ | - | - | ✓ | ✓ | ✓ | |
| Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease (PCWH) | - | ✓ | - | - | ✓ | - | ✓ | ||
| Kallmann syndrome | - | - | - | - | ✓ | ✓ | ✓ | ||
| SOXF | SOX7 | - | - | - | - | - | - | - | - |
| SOX17 | [Congenital anomalies of the kidney and urinary tract (CAKUT)] | - | - | - | - | - | ✓ | - | |
| Pulmonary arterial hypertension and congenital heart failure (PAH-CHD) | - | - | - | - | ✓ | ✓ | ✓ | ||
| SOX18 | hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (HLTRS) | - | - | - | - | ✓ | - | ✓ | |
| SOXG | SOX15 | - | - | - | - | - | - | - | - |
| SOXH | SOX30 | - | - | - | - | - | - | - | - |
Del, deletion; Dup, duplication; Fs, frameshift mutation; Inv, inversion; Ms, missense mutation within (HMG) or outside (Other) the HMG domain; Ns; nonsense mutation; T, translocation. Unconfirmed diseases are listed in square brackets.