Table 3. Clinical features of PRPS1-related disorders.
| Mutation | |||||
|---|---|---|---|---|---|
| Loss-of-function | Gain-of-function | ||||
| Clinical symptom | Present study | Arts syndrome | CMTX5 | DFN2 | PRS-I superactivitya |
| Neurological | |||||
| Intellectual disability | Severe | + | − | − | +/− |
| Ataxia | + | + | + | − | +/− |
| Truncal hypotonia | + | + | + | − | +/− |
| Delayed motor development | Severe | + | − | − | +/− |
| Deep tendon reflexes | Brisk | Absent | Absent | Normal | Normal |
| Hearing impairment | + | + | + | + | +/− |
| Optic atrophy | + | + | + | − | + |
| Limb spasticity | + | − | − | − | − |
| Retinal dystrophy | + | − | − | − | − |
| Hematopoietic | |||||
| Recurrent infections | − | + | − | − | − |
| Anemia | − | − | − | − | − |
| Uric acid overproduction | |||||
| Gout and kidney stones | − | − | − | − | + |
| Renal failure | − | − | − | − | + |
| Other | |||||
| Short stature | + | − | − | − | − |
| Self-injury | − | − | − | − | − |
| Early death | + | + | − | − | − |
| Diabetes insipidus | + | − | − | − | − |
| Facial dysmorphisms | + | − | − | − | − |
a
Infantile onset.