Table 2.
Genetic findings in 12 children with ocular features of albinism and no obvious skin pigmentation abnormalities.
| proband ID | gene panel used for testing (number of genes evaluated) | variant 1 | variant 2 | variant 3 | samples available for segregation |
|---|---|---|---|---|---|
| 1 | ocular/oculocutanous albinism (18) | GPR143 c.659-1 G > A | — | — | mother |
| 2 | nystagmus & foveal hypoplasia (26) | SLC38A8 c.534 C > G p.(Ile178Met) | SLC38A8 exon 2 to 5 deletion | — | none |
| 3 | ocular/oculocutanous albinism (18) | TYR c.1217 C > T p.(Pro406Leu) | TYR c.575 C > A p.(Ser192Tyr) | TYR 1205 G > A p.(Arg402Gln) | none |
| 4 | optic nerve disorders (40) | TYR c.1118 C > A p.(Thr373Lys) | TYR c.575 C > A p.(Ser192Tyr) | TYR 1205 G > A p.(Arg402Gln) | mother & father |
| 5 | ocular/oculocutanous albinism (18) | TYR c.823 G > T p.(Val275Phe) | TYR c.[575 C > A; 1205 G > A] p.[(Ser192Tyr);(Arg402Gln)] | OCA2 c.1327 G > A p.(Val443Ile) | mother & father |
| 6 | nystagmus & foveal hypoplasia (26) | TYR c.1118 C > A p.(Thr373Lys) | TYR c.[575 C > A; 1205 G > A] p.[(Ser192Tyr);(Arg402Gln)] | — | mother & father |
| 7 | nystagmus & foveal hypoplasia (26) | TYR c.[575 C > A; 1205 G > A] p.[(Ser192Tyr);(Arg402Gln)] | TYR c.[575 C > A; 1205 G > A] p.[(Ser192Tyr);(Arg402Gln)] | — | no |
| 8 | ocular/oculocutanous albinism (18) | TYR c.[575 C > A; 1205 G > A] p.[(Ser192Tyr);(Arg402Gln)] | TYR c.[575 C > A; 1205 G > A] p.[(Ser192Tyr);(Arg402Gln)] | TYRP1 c.208 G > A p.(Ala70Thr) | mother, father & affected brother |
| 9 | clinical exome | OCA2 c.1327 G > A p.(Val443Ile) | TYR c.575 C > A p.(Ser192Tyr) | TYR 1205 G > A p.(Arg402Gln) | no |
| 10 | nystagmus & foveal hypoplasia (26) | OCA2 c.2346deIG p.(Thr783Hisfs*2) | TYR c.1392dupT p.(Lys465*) | — | mother |
| 11 | nystagmus & foveal hypoplasia (26) | OCA2 c.1441 G > A, (p.Ala481Thr) | TYR c.1217 C > T, p.(Pro406Leu) | — | mother |
| 12 | ocular/oculocutanous albinism (18) | no pathogenic variant identified | — | — | no |
The genes and transcripts included in each gene panel can be found in Supplementary Table 1. The results of segregation are discussed in the text and family trees are provided in the Supplementary File.