Table 1.
Biochemical and Clinical Characteristics in Individuals with MRPS34 Variants
|
Subject Details |
MRPS34 Variants |
OXPHOS Enzyme Activitiesa |
Clinical Summary |
|||||
|---|---|---|---|---|---|---|---|---|
| ID | Sex | Ethnicity | cDNA (GenBank:NM_023936.1); Protein (GenBank:NP_076425.1) | Tissue | Deficient Enzymes | Age of Onset | Clinical Course | Clinical Features and Relevant Family History |
| S1 | male | Italian | c.[321+1G>T];[321+1G>T], p.[Val100_Gln107del];[Val100_Gln107del] | muscle liver fibroblasts |
CI, CIII, CIV CI, CIV CI, CIV |
4 months | died at 9 months | Leigh syndrome,b hyperlacticacidemia, microcephaly |
| S2a | female | Puerto Rican | c.[322−10G>A];[322−10G>A], p.[Asn108Leufs∗12, Asn108Glyfs∗50, = ];[Asn108Leufs∗12, Asn108Glyfs∗50, = ] | muscle (19 months) muscle (12 years) |
not deficient CI, CIII, CIV |
6 months | alive at 17 years | Leigh syndrome,b non-verbal, microcephaly, horseshoe kidney, mild coarsening of facial features |
| S2b | female | Puerto Rican | c.[322−10G>A];[322−10G>A], p.[Asn108Leufs∗12, Asn108Glyfs∗50, = ];[Asn108Leufs∗12, Asn108Glyfs∗50, = ] | not performed | 6 months | alive at 14 years | Leigh-like syndrome, abnormal MRI, non-verbal, microcephaly, mild coarsening of facial features, sibling of S2a | |
| S3a | female | Puerto Rican | c.[322−10G>A];[322−10G>A], p.[Asn108Leufs∗12, Asn108Glyfs∗50, = ]; [Asn108Leufs∗12, Asn108Glyfs∗50, = ] | muscle | CI, CII, CIII, CIV | 6 months | alive at 7 years | Leigh syndrome,b non-verbal, suspected sleep apnea, dysmorphic facies, precocious adrenarche |
| S3b | female | Puerto Rican | c.[322−10G>A];[322−10G>A], p.[Asn108Leufs∗12, Asn108Glyfs∗50, = ];[Asn108Leufs∗12, Asn108Glyfs∗50, = ] | not performed | 6 months | alive at 2 years | Leigh syndrome,b suspected sleep apnea, sibling of S3a | |
| S4 | male | French | c.[37G>A];[94C>T], p.[Glu13Lys];[Gln32∗] | muscle fibroblasts |
CIV CIV |
∼10 days | died at 8.5 months | Leigh syndrome,b transient metabolic acidosis, hemodynamic instability related to tubulopathy |
a
Activities of OXPHOS enzyme complexes I, II, III, IV (CI, CII, CIII, CIV) were measured in skeletal muscle, liver, or skin fibroblasts; for details see Table S2.
b
Diagnoses of Leigh syndrome include compatible neuroimaging or postmortem findings.