Table 2.
Mutations in ELOVL4 that have been linked to human disease
| Study | Mutation | Phenotype | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| First Reported | Exon | Site | Mutation | Genetic Consequence | Inheritance | Macular Degeneration | Seizures | Spinocerabellar Ataxia | Ichthyosis | Erythrokeratodermia variabilis | Hypertonia | Leathality |
| Zhang et al. (2001) | 6 | c.797–801 | del_AACTT | premature stop, truncation | Dominant | Y | N | N | N | N | N | N |
| Bernstein et al. (2001) | 6 | c.789, c.794 | del_T, del_T | frameshift, truncation | Dominant | Y | N | N | N | N | N | N |
| Maugeri et al. (2004) | 6 | c.810 | C > G | p.Tyr270X, truncation | Dominant | Y | N | N | N | N | N | N |
| Bardak et al. (2016) | 6 | c.814 | G > C | p. E272Q, truncation | Dominant | Y | N | N | N | N | N | N |
| Bardak et al. (2016) | 6 | c.859 | A > G | p. M299V, truncation | Dominant | Y | N | N | N | N | N | N |
| Aldahmesh et al. (2011) | 5 | c.646 | C > T | p.Arg216X, truncation | Recessive | N | Y | N | Y | N | Y | Y |
| Aldahmesh et al. (2011) | 6 | c.690 | del | p.Ile230Metfs*22, truncation | Recessive | N | Y | N | Y | N | Y | Y |
| Mir et al. (2014) | 1 | c.78 | C > G | p.Tyr26*, truncation | Recessive | N | Y | N | Y | N | Y | Y |
| Cadieux-Dion et al. (2014) | 4 | c.540 | G > C | p. L168F | Dominant | N | N | Y | N | Y | N | N |
| Bourassa et al. (2015) | 6 | c.736 | T > G | p. W246G | Dominant | N | N | Y | N | N | N | N |
| Ozaki et al. (2015) | 4 | c.539 | A > C | p. Glnl80Pro | Dominant | N | N | Y | N | Y | N | N |