Table 2 Clinical and molecular data of reported WARS2 deficient subjects
Subject Publication | Gender | Age at onset | Age at publication | Clinical findings | Molecular findings |
|---|---|---|---|---|---|
F2-V:7 [7] | F | ND | 17 years | Long philtrum, ataxia, athetosis, aggressive behaviour | Trp13Gly Ser109Alafs*15 |
F2-V:8 [7] | F | ND | 16 years | Long philtrum, ataxia, athetosis, aggressive behaviour | Trp13Gly Ser109Alafs*15 |
[9] | M | Neonatal | 24 years (deceased) | Severe infantile onset leukoencephalopathy, spastic quadriplegia, hypoglycemia (neonatal), epilepsy | Leu100del Lys313Met |
F1, I1 [10] | F | Neonatal | 23 days (deceased) | Fatal lactic acidosis | Lys31_Gln116del Val349Leu |
F2, I2 [10] | M | Neonatal | 3.5 years (deceased) | Lactic acidosis, epilepsy, hypoglycaemia (neonatal) | Pro266Argfs*10 Lys313Met |
F2, I3 [10] | M | Neonatal | 1.5 years (deceased) | Lactic acidosis, epilepsy, hypoglycaemia (neonatal) | Pro266Argfs*10 Lys313Met |
F3, I4 [10] | F | 4 months | 3 years (deceased) | Epilepsy, muscular hypotonia, cardiomyopathy, retinitis pigmentosa | His77Gln Glu352Lys |
F4, I5 [10] | M | 13 months | 3 years | Dystonia, suspected epilepsy | Val178Leu (homozygous) |
F5, I6 [10] | F | 18 months | 10 years | Ataxia, nystagmus | Gly45Val Lys313Met |
[11] | M | 1 year | 17 years | Parkinson-like symptoms, dystonia | Trp13Gly Ser228Trp |
Proband | F | Before 6 months | 6.5 years (deceased) | Epilepsy, ptosis, hypoglycaemia, valproate induced hepatotoxicity | Pro266Argfs*10 Lys313Met |