Table 2.
Initial clinical diagnosis and monoallelic variants identified by other approaches in each of the probands included in the study.
| Family ID (index) | Clinical diagnosis | Previous variants | Previous studies | Second variant in the same gene | Solved with this panel |
|---|---|---|---|---|---|
| A (II:1) | STGD | — | None | — | Yes (ABCA4) |
| B(II:1) | COD | m4:ABCA4 c.466A > G; p.Ile156Val | Complete sequencing by NGS of coding exons of ABCA4 and CRX (External genetics laboratory - Imegen, S.L.) | No | Yes (CNGB3) |
| C (II:1) | sRP and unilateral maculopathy | m6:ABCA4 c.6148G > C; p.Val2050Leu | Targeted Sequencing Panel30 | No | Unknown (FSCN2) |
| D (II:1) | LCA | — | None | — | Yes (LRAT) |
| E (II:4) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| F (II:3) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | Yes | Yes |
| G (II:1) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| H (II:3) | arRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| I (II:2) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| J (II:1) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| K (II:1) | sRP sine pigmento | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| L (II:1) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| M (II:1) | USHER | M17: USH2A c.2299del; p.Glu767Serfs*21 | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| N (II:12) | arRP | M17: USH2A c.2299del; p.Glu767Serfs*21 | Genotyping microarray for arRP (584 known variants, Asper Biotech, Ltd) | Yes | Yes |
| O (II:1) | sRP | M9:USH2A c.2276G > T; p.Cys759Phe | Sanger Sequencing of USH2A exon 13 | Yes | Yes |
| P (II:9) | USHER | M20:USH2A c.907 C > A; p.Arg303Ser | Genotyping microarray for arRP (584 known variants, Asper Biotech, Ltd) | Yes | Yes |
| Q (II:4) | arRP | M20:USH2A c.907 C > A; p.Arg303Ser | Targeted Sequencing with the same panel as30 [Bravo-Gil et al., 2017] | Yes | Yes |
| R (II:6) | USHER | — | None | — | Yes (USH2A) |
| S (II:1) | sRP | m33:USH2A c.5363A > G; p.Asp1788Gly | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | Unknown (USH2A) |
| T (II:1) | sRP | m26:ABCA4 c.5881G > A; p.Gly1961Arg//m27:CEP290 c.2691A > G; p.Ile897Met | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| U (II:3) | sRP | m28:ABCA4 c.5882G > A p.Gly1961Glu | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| V (II:1) | sRP | m29:ABCA4 c.5908 C > T; p.Leu1970Phe | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| W (II:3) | sRP | m6:ABCA4 c.6148G > C; p.Val2050Leu | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| X (II:1) | sRP | m6:ABCA4 c.6148G > C; p.Val2050Leu | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| Y (II:1) | arRP | m30:CEP290 c.3517C > A p.Gln1173Lys | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| Z (II:1) | sRP | m31:CEP290 c.4237G > C; p.Asp1413His | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| AA (II:4) | sRP | m32:USH2A c.1486A > G; p.Thr496Ala | Targeted Sequencing Panel30 [Bravo-Gil et al., 2017] | No | No |
| AB (II:1) | STGD | — | None | — | No |
| AC (II:3) | STGD | m4:ABCA4 c.466A > G; p.Ile156Val | Targeted Sequencing Panel30 [Bravo-Gil et al., 2016] | No | No |
arRP: Autosomal recessive Retinitis Pigmentosa; COD: Cone Dystrophy; LCA: Leber Congenital Amaurosis; sRP: Simplex RP; STGD: Stargardt disease. Uppercase “M#” indicates likely causal mutations, lowercase “m#” indicates other variants.