Table 1.
Different tissue-specific disorders caused by different ELOVL4 mutations in humans
| Genetic Mutations | Exon | Genetic Consequence/Resultant Protein | Inheritance | Retinal Pathology | Brain Pathology | Skin Pathology | Reference |
|---|---|---|---|---|---|---|---|
| 797–801 del AACTT “5 bp deletion” | 6 | Premature stop, truncated protein | Autosomal dominant | STGD3 | None reported | None reported | (1, 2) |
| 789 del T, 794 del T “2 bp deletion” | 6 | Premature stop, truncated protein | Autosomal dominant | STGD3 | None reported | None reported | (3) |
| c.810C > G | 6 | p.Y270X, truncation | Autosomal dominant | STGD3 | None reported | None reported | (4) |
| c.-90G > C | Promoter, rs62407622 | Downregulation of ELOVL4 expression | Autosomal dominant | STGD3 | None reported | None reported | (34) |
| c.-236C > T | Promoter, rs240307 | Downregulation of ELOVL4 expression | Autosomal dominant | STGD3 | None reported | None reported | (34) |
| c.504G > C | 4 | p.L168F | Autosomal dominant | None reported | Age-related cerebellar atrophy causing ataxia in patients with SCA34 | Erythrodermia variabilis, a skin lesion disorder | (35) |
| c.736T > G | 6 | p.W246G | Autosomal dominant | None reported | Age-related cerebellar atrophy causing ataxia in patients with SCA34 | None reported in human, but present in homozygous W246G knockin rats | (36) |
| c.539A > C | 4 | p.G180P | Autosomal dominant | None reported | Age-related cerebellar atrophy causing ataxia in patients with SCA34 | Erythrodermia variabilis, a skin lesion disorder | (37) |
| c698C > T | 4 | p.T233M | Autosomal dominant | None reported | Age-related cerebellar atrophy causing ataxia in patients with SCA34 | Erythrodermia variabilis, a skin lesion disorder | (38) |
| c.512T > C | 4 | p.I171T | Autosomal dominant | Retinitis pigmentosa | Age-related cerebellar atrophy causing ataxia in patients with SCA34 | None reported | (39) |
| c.689delT | 6 | p.Ile230Metfs∗22, truncation | Homozygous recessive | Limited retinal examination but no functional retinal data reported | Seizures, intellectual disability, and early childhood mortality | Ichthyosis | (40) |
| c.646C > T | 5 | p.Arg216X, truncation | Homozygous recessive | Limited retinal examination but no functional retinal data reported | Seizures, intellectual disability, and early childhood mortality | Ichthyosis | (40) |
| c.78C > G | 1 | p.Tyr26∗, truncation | Homozygous recessive | Tortuos vessel in macular area with subtle macular changes | None reported | Ichthyosis | (41) |