Table 1.
RS1 disease-causing mutations identified in Czech families with X-linked retinoschisis.
| Family | DNA Level | Protein Level | ClinVar Interpretation/VCV Accession | References |
|---|---|---|---|---|
| F1, F2 | c.20del | p.(Gly7Alafs*119) | Not present | Novel |
| F3, F4, F15 | c.33_36del | p.(Leu11Phefs*114) | Pathogenic/VCV000098944.7 | [25] |
| F5 | c.187T>C | p.(Cys63Arg) | Not present | [26] |
| F6 | c.275G>A | p.(Trp92*) | Not present | Novel |
| F7, F8 | c.305G>A | p.(Arg102Gln) | Pathogenic/VCV000009896.11 | [11,25,27,28,29] |
| F9 | c.375_379del | p.(Asp126Glufs*16) | Not present | Novel |
| F10 | c.539C>A | p.(Ser180*) | Not present | Novel |
| F16 | c.421C>T | p.(Arg141Cys) | Pathogenic/VCV000098959.9 | [11,25,30] |
| F11, F17 | c.544C>T | p.(Arg182Cys) | Pathogenic/VCV000098986.3 | [25,29,31,32] |
| F12 | c.574C>T | p.(Pro192Ser) | Pathogenic/VCV000098990.4 | [15,25,32] |
| F13 | c.575_576insT | p.(Ile194Hisfs*70) | Not present | Novel # |
| F14 | c.637C>T | p.(Arg213Trp) | Pathogenic/VCV000099009.5 | [25,29,33,34] |
NM_000330.3 was used as the reference sequence; # Novel at DNA level; at protein level p.(Ile194Hisfs*70) has been reported.