Table 2 Genetic findings in 12 children with ocular features of albinism and no obvious skin pigmentation abnormalities.
From: Clinical and genetic variability in children with partial albinism
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 |
