Table 3. Clinical phenotypes associated with RARS variants.
| Reference |
Wolf et al. (2001) |
This study |
|||||
|---|---|---|---|---|---|---|---|
| Patient | P1 | P2 | P3 | P4 | P1 | P2 | P3 |
| Genotype | Compound heterozygous | Compound heterozygous | Compound heterozygous | Compound heterozygous | Homozygous | Homozygous | Compound heterozygous |
| RARS variants | c.5A>G; p.(Asp2Gly) c.45+1G>T Splice error | c.5A>G; p.(Asp2Gly) c.45+1G>T Splice error | c.5A>G; p.(Asp2Gly) c.96_97del;p.(Cys32Trpfs*39) | c.1A>G; p. (Met1?) c.1535G>A;(p.Arg512Gln) | c.[5A>G] p.(Asp2Gly) | c.[5A>G] p.(Asp2Gly) | c.[1367C>T]p.(Ser456Leu) c.[1846-1847delTA] p. (Tyr616Leufs*6) |
| Sex | Female | Female | Male | Female | Male | Female | Male |
| Age at onset | 1 year | 5 months | End of the first year | 2 months | First year of life | First year of life | 3 months |
| Status | NK | NK | NK | NK | Alive | Alive | NK |
| Consanguinity | NK | NK | NK | NK | Non-consanguineous | Non-consanguineous | Consanguineous (first cousins) |
| Ethnicity | Dutch | Dutch | Dutch | Dutch | Maltese | Maltese | Turkish |
| Clinical features | Nystagmus, spasticity, mild intention, tremor, dysmetria, dysarthria, intellectual disability, lower limb spasticity | Mild pyramidal syndrome, spasticity of lower limbs and ataxia, slow cognitive and language development | Delayed motor development, nystagmus, spasticity of all limbs, ataxia, intellectual disability | Microcephaly, developmental delay, transient nystagmus, axial hypotonia, pyramidal syndrome | Motor delay, bilateral horizontal nystagmus, ataxia, cognitive impairment | Nystagmus, cognitive impairment, ataxia | Microcephaly, nystagmus, blindness, severe cognitive impairment, no language development, focal epilepsy, spasticity of all limbs |
| MRI | Elevation of the supratentorial white matter on the T2-weighted, hypointense T1 signal (indicating severe lack of myelin) | Elevation of the supratentorial white matter on the T2-weighted, hypointense T1 signal | Elevation of the supratentorial white matter on the T2-weighted, hypointense T1 signal, white matter atrophy | Elevation of the supratentorial white matter on the T2-weighted, hypointense T1 signal | Dys/demyelination in the central white matter and non-myelination in the peripheral white matter | Not done | Corpus callosum hypoplasia, diffuse dys/hypomyelination of the central white matter |
Abbreviations: NK, not known. Transcription reference sequence: NM_002887.3.