Table 1.
Clinical cases with mutations identified in NDUFV1 and comparison with effects in Y. lipolytica
| Mutation(s) | Zygosity | Clinical reporta | References | Effects in Y. lipolytica |
|---|---|---|---|---|
| S56P+T423M | Compound heterozygous | Leuko-encephalopathy (alive at 2.5 years) | (7) | Not conserved+ complex I absent |
| R88G+R199P | Compound heterozygous | Fatal infantile lactic acidosis (died 4 months) | (24) | Complex I absent+ normal |
| K111E+R386H | Compound heterozygous | Not known | (25) | Not conserved+ impaired |
| A117T+E246K | Compound heterozygous | Fatal infantile lactic acidosis (died 3 days) | (26) | Complex I absent+ complex I absent |
| R147W mtDNA | Heterozygous+mtDNA | Not known | (25) | Normal +not studied |
| Y204C+C206G | Compound heterozygous | Leigh syndrome (alive at 7 years) | (27,28) | Complex I absent+ no flavin |
| A211V+R257Q | Compound heterozygous | Leuko-encephalopathy (alive at 16 months) | (29) | Not conserved+ complex I absent |
| E214K | Compound heterozygous; second variant not expressed owing to mutation in donor splice-site | Leigh syndrome (died 3 years) |
(28) | Impaired |
| P252R+R386H | Compound heterozygous | Not known | (25) | Complex I absent+ impaired |
| A341V | Homozygous | Leuko-encephalopathy (alive at 10 years) | (30) | Normal |
| E377K | Homozygous | Fatal infantile lactic acidosis (died 4 months) | (25) | No flavin |
| R386C | Homozygous | Leuko-encephalopathy (alive at 32 months) | (24,31) | Impaired |
| R386H | Homozygous | Leigh syndrome (died 5–8 months) | (32) | Impaired |
| T423M+R59X | Compound heterozygous; R59X variant not expressed | Myoclonic epilepsy (died 18 months) | (30) | Complex I absent |
| A432P | Compound heterozygous; second variant not expressed owing to two base deletion | Leigh syndrome (died 1.5 years) | (28) | Impaired |
aA detailed summary of clinical data is presented in Supplementary Material, Table S1.