Figure 1.
Figure 2.
Figure 3.
Figure 4.
Summary of reported OCA2 variants from previous studies
| No. | Variant(s) | Protein change(s) | Type of variant(s) | ACMG | Clinical findings | Population | Reference |
|---|---|---|---|---|---|---|---|
| 1 | c.593C>T, c.1426A>G | p.Pro198Leu, p.Asn476Asp | Missense, missense (compound heterozygous) | Pathogenic, likely pathogenic | Milky white skin, blond hair, green irises, nystagmus | Chinese | Wang et al. [21] |
| 2 | c.2458T>C | p.Ser820Pro | Missense (homozygous) | VUS | White hair, pale skin, nystagmus, photophobia, and foveal hypoplasia | Pakistani | Arshad et al. [20] |
| 3 | c.408_409delAA | p.Arg137Ilefs*83 | Frameshift (heterozygous) | Pathogenic | White hair, pale skin, nystagmus, photophobia, and foveal hypoplasia | Pakistani | Arshad et al. [20] |
| 4 | c.1762C>T | p.Arg588Trp | Missense (heterozygous) | Benign | White hair, pale skin, nystagmus, photophobia, and foveal hypoplasia | Pakistani | Arshad et al. [20] |
| 5 | c.1045-15T>G | — | Splicing (homozygous) | Likely pathogenic | White hair, pale skin, nystagmus, photophobia, and foveal hypoplasia | Pakistani | Arshad et al. [20] |
| 6 | c.2020C>G | p.Leu674Val | Missense (homozygous) | Likely pathogenic | White hair, pale skin, nystagmus, photophobia, and foveal hypoplasia | Pakistani | Arshad et al. [20]; Lee et al. [22] |
| 7 | c.1327G>A | p.Val443Ile | Missense (homozygous) | Likely pathogenic | White hair, pale skin, nystagmus, photophobia, and foveal hypoplasia | Pakistani | Arshad et al. [20]; Mondal et al. [23] |