Table 1 PDHA1 mutations in patients 1 and 2 and in the literature
Exon | Nucleotide change (amino acid change) | Sex | Mother | PDHc activity (%) | Phenotype | Reference |
|---|---|---|---|---|---|---|
8 | c.788G>A (p.R263Q) | M | NC | 38 | Leigh | Case 1 |
8 | c.787C>G (p.R263G) | F | C | 53 | Dystonia | U(KDS)6 |
8 | c.787C>G (p.R263G) | M | NC | 50 | Lactic acidosis and ataxia | U(KDS)6 |
8 | c.787C>G (p.R263G) | M | NA | 30 | Lactic acidosis and ataxia | Wexler et al.20 |
8 | c.787C>G (p.R263G) | M | C | 77 | Lactic acidosis and mental retardation | Wexler et al.21 |
8 | c.787C>G (p.R263G) | M | NC | 16 | Mental retardation and ataxia | Chun et al.8 |
8 | c.787C>G (p.R263G) | M | C | 49 | Mental retardation and ataxia | Chun et al.8 |
8 | c.787C>G (p.R263G) | M | C | 39 | Mental retardation and ataxia | Chun et al.22 |
8 | N.A (p.R263G) | M | C | 50 | Leigh | Briones et al.23 |
8 | c.787C>G (p.R263G) | M | C | 31 | Leigh | Lissens et al.24 |
8 | N.A (p.R263G) | M | NC | 46 | Leigh | Marsac et al.25 |
8 | N.A (p.R263G) | M | NC | NA | Leigh | Marsac et al.25 |
8 | c.787C>G (p.R263G) | M | C | NA | Leigh | Naito et al.26 |
5 | c.433_435delTGT (p.C145del) | F | NC | NA | Neonatal lactic acidosis, necrosis of basal ganglia and periventricular leukomalacia | Case 2 |
5 | c.422G>A (p.R141Q) | M | NA | 32 | Neonatal lactic acidosis and corpus callosum agenesis | U(BGK)6 |
5 | c.429_431delAGG (p.G144del) | M | NA | 16 | Lactic acidosis | Ostergaard et al.27 |
