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Table 1 Summary of findings in family RP-0482 and comparison with other PRS-I deficiency disorders (adapted from de Brouwer et al. [11])

From: Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy

  IV:3 IV:2 III:2 Arts syndrome CMTX5 DFN2
Date of birth 1978 1976 1943    
Symptoms (age at diagnosis)       
Ophthalmological       
Retinitis Pigmentosa + (14y) + (23y) + (47y) - - -
Night blindness ++ (4y) + (16y) + - - -
Visual field constriction ++ + + - - -
Visual acuity loss ++ (4y) - ++ - - -
ERG alteration ++ +/− ++ - - -
Pigmentary changes at fundus + +/− + - - -
Macular atrophy ++ + + - - -
Optic atrophy + (5y) + (16y) + (47y) + + (~10y) +
Nystagmus + (Congenital) - - - - -
Cataracts + - + - - -
Hyperopia + + +/− - - -
Hearing impairment ++ (21y) - + (50y) ++ + +
Neurological ++ (34y) - + (55y)    
Mild developement delay +/− - - + - -
Hypotonia + - - + + -
Delayed motor development - - - + - -
Peripheral neuropathy ++ - + + + -
Pes cavus + - - NR NR NR
Loss of deep tendom reflexes - - - - + -
Cerebellar Atrophy ++ - +    
Ataxia + - + + + -
Essential tremor + + +    
Symptoms in carrier females +++ + ++ Isolated and milder Hearing loss None
PRS activity erythrocytes (nmol/h/mg Hb) (Reference: 70–126) Erythrocytes: 10 Erythrocytes: 41 Erythrocytes: 65 Erythrocytes: No activity Fibroblasts: Decreased Erythrocytes and fibroblasts: Decreased
Fibroblasts 13-fold decrease
EBV-LCLs: normal
Structural effect of mutation Whole protein structure? ATP site and allosteric sites I and II ATP site and allosteric site I Local structure
  1. The number of “+” indicate the severity of the manifestation. NR = Not reported and EBV-LCLs = Epstein-Barr virus–transformed lymphoblastoid cell lines.