Table 2.
Genes known to be associated with Leigh syndrome
| Gene | Defect | Location | Reference |
|---|---|---|---|
| BCS1L | Complex III | Nuclear | Morán et al, 201078 |
| C12ORF65 | Complex I | Nuclear | Antonicka et al, 201079 |
| COX10 | Complex IV | Nuclear | Böhm et al, 2006;32 Antonicka et al, 200331 |
| COX11 | Complex IV | Nuclear | Böhm et al, 200632 |
| COX15 | Complex IV | Nuclear | Böhm et al, 200632 |
| FOXRED1 | Complex I | Nuclear | Calvo et al, 201080 |
| GFM1 | Mitochondrial translation defect | Nuclear | Genetics Home Reference, 20112 |
| LRPPRC | Complex IV | Nuclear | Debray et al, 201137 |
| MT-ATP6 | Complex V | Mitochondrial | Saneto and Singh, 2010;6 Kucharczyk et al, 2009;41 Baracca et al, 2007;39 Santorelli et al, 19939 |
| MT-ND1 | Complex I | Mitochondrial | Lenaz et al, 200481 |
| MT-ND2 | Complex I | Mitochondrial | Genetics Home Reference, 20112 |
| MT-ND3 | Complex I | Mitochondrial | Leng et al, 2014;52 Gerards et al, 2013;20 Levy et al, 201382 |
| MT-ND4 | Complex I | Mitochondrial | Mitchell et al, 200483 |
| MT-ND5 | Complex I | Mitochondrial | Kirby et al, 200384 |
| MT-ND6 | Complex I | Mitochondrial | Kirby et al, 200085 |
| MT-TK | Complex I | Mitochondrial | Rahman et al, 199612 |
| MT-TL1 | Complex I | Mitochondrial | Rahman et al, 199612 |
| MT-TV | Complex I | Mitochondrial | Rahman et al, 199612 |
| MT-TW | Complex I | Mitochondrial | Rahman et al, 199612 |
| NDUFA1 | Complex I | X-linked | Fernandez-Moreira et al, 200786 |
| NDUFA2 | Complex I | Nuclear | Hoefs et al, 200887 |
| NDUFA4 | Complex IV | Nuclear | Pitceathly et al, 201388 |
| NDUFA9 | Complex I | Nuclear | van den Bosch et al, 201288 |
| NDUFA10 | Complex I | Nuclear | Hoefs et al, 201190 |
| NDUFA11 | Complex I | Nuclear | Bénit et al, 200491 |
| NDUFA12 | Complex I | Nuclear | Ostergaard et al, 201091 |
| NDUFAF2 | Complex I | Nuclear | Hoefs et al, 200993 |
| NDUFAF5 | Complex I | Nuclear | Chol et al, 200310 |
| NDUFAF6 | Complex I | Nuclear | Genetics Home Reference, 20112 |
| NDUFS1 | Complex I | Nuclear | Bénit et al, 2001;94 Martín et al, 200593 |
| NDUFS2 | Complex I | Nuclear | Tuppen et al, 201096 |
| NDUFS3 | Complex I | Nuclear | Bénit et al, 200194 |
| NDUFS4 | Complex I | Nuclear | Quintana et al, 2010;97 Anderson et al, 2008;98 Leshinsky-Silver et al, 200999 |
| NDUFS7 | Complex I | Nuclear | Lebon et al, 2007100,101 |
| NDUFS8 | Complex I | Nuclear | Marina et al, 2013102 |
| NDUFV1 | Complex I | Nuclear | Bénit et al, 200194 |
| PDHA1 | Pyruvate dehydrogenase deficiency | X-linked | Lissens et al, 2000;103 Rahman et al, 199612 |
| PDHB | Pyruvate dehydrogenase deficiency | X-linked | Quintana et al, 2009104 |
| PDHX | Pyruvate dehydrogenase deficiency | X-linked | Schiff et al, 2006105 |
| PDSS2 | Ubiquinone deficiency | Nuclear | López et al, 200621 |
| PET100 | Complex IV | Nuclear | Lim et al, 2014106 |
| SCO2 | Complex IV | Nuclear | Joost et al, 2010107 |
| SDHA | Complex II | Nuclear | Pagnamenta et al, 2006108 |
| SDHAF1 | Complex II | Nuclear | Ohlenbusch et al, 2012109 |
| SLC19A3 | Thiamine transport defect | Nuclear | Gerards et al, 201320 |
| SUCLA2 | Mitochondrial DNA depletion | Nuclear | Carrozzo et al, 2007;3 Ostergaard et al, 2007110 |
| SUCLG1 | Mitochondrial DNA depletion | Nuclear | Ostergaard et al, 201092 |
| SURF1 | Complex IV | Nuclear | Rossi et al, 200334 |
| TACO1 | Complex IV | Nuclear | Weraarpachai et al, 2009111 |
| TTC19 | Complex III | Nuclear | Atwal, 2013112 |
| UQCRQ | Complex III | Nuclear | Barel et al, 2008113 |
Note: References listed are only a sample of published literature.