Table 1 Comparison of previously reported individuals with our study.
This study | Gardeitchik et al. [8] | Liu et al. [9] | Papadopoulos et al. [10] | |||
|---|---|---|---|---|---|---|
Family | Family 1 | Family 2 | Family 3 | Family 4 | Family 5 | Family 6 |
Proband ID | P1 | P2 | P3 | P4 | P5 | P6 |
Gender | Male | Male | Female | Male | Female | Female |
Ethnicity | Indian | Indian | Austrian | Tunisian | Chinese | Sri Lankan |
Consanguinity | Consanguineous | Consanguineous | Non-consanguineous | Non-consanguineous | Not known | Consanguineous |
Variants in MRPS2 (NM_016034.5) | c.490 G > A p.(Glu164Lys) | c.413 G > A p.(Arg138His) | c.[328 C > T];[340 G > A] p.[(Arg110Cys)]; [(Asp114Asn)] | c.413 G > A p.(Arg138His) | c.412 C > G p.(Arg138Gly) | c.328 C > T p.(Arg110Cys) |
Exon/Intron | Exon 4 | Exon 4 | Exon 4 | Exon 4 | Exon 4 | Exon 4 |
Zygosity | Homozygous | Homozygous | Compound heterozygous | Homozygous | Homozygous | Homozygous |
Age at last examination | 6 months | 1 year 5 months | 11 years | 11 years | 7 years | 5 years |
Age at onset | Day 41 | 1 month | 1 year | 6 years | 4 years 5 months | 17 months |
Complaints at initial evaluation | Cardiogenic shock | Hypoglycaemia | Failure to thrive | Hypoglycaemia | Hypoglycaemia | Hypoglycaemia |
Developmental history | ||||||
Motor delay | Mild | No | Yes | Yes | No | Yes |
Cognitive delay | No | No | Yes | Yes | Yes | Yes |
Behavioural difficulties | No | No | No | No | Yes | Yes |
Speech delay/disorder | No | No | Yes, due to sensorineural hearing loss | Yes, due to sensorineural hearing loss | Yes, due to sensorineural hearing loss | Yes, due to sensorineural hearing loss |
Clinical examination | ||||||
Failure to thrive | Yes | No | Yes | Yes | Yes | Yes |
Dysmorphism | No | No | Yes | No | No | Yes |
Hypotonia | No | No | Yes | Yes | No | Yes |
Cardiac involvement | Yes | No | No | No | No | No |
Investigations | ||||||
MRI (Brain) | NA | NA | Normal | Normal | NA | Normal |
Cardiac evaluation | Severe Pulmonary arterial hypertension on presentation | NA | NA | NA | NA | NA |
Hearing evaluation | NA | NA | Sensorineural hearing loss | Sensorineural hearing loss | Sensorineural hearing loss | Sensorineural hearing loss |
Biochemical testing | ||||||
Hypoglycaemia | No | Yes | Yes | Yes | Yes | Yes |
Plasma lactate (mmol/l) | Elevated | Normal | Elevated | Elevated | Elevated | Elevated |
Creatinine Kinase | Elevated | NA | No | No | NA | No |
Increased expression of Krebs intermediate (Urine) | Significantly elevated ethyl malonic acid | NA | Yes | Yes (2-oxoglutarate in urine) | No | Yes (Fumarate/Malate) |
OXPHOS complex activity | Fibroblast: CI: low CIV: low | NA | Muscle: CI: normal, CIV: low Liver: CI: low, CIV: low Fibroblasts: CI: normal; CIV: low | Muscle: CI: normal, CIV: low Liver: CI: low, CIV: low Fibroblasts: CI: normal, CIV: low | Not done | Fibroblasts: CI: normal CIV: low |
