Table 2.
Genetic findings in the patients with pericentral RP.
| Patient | Family | Gene | RefSeq | Allele 1 | Allele 2 | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Nucleotide | Protein | Reference | Nucleotide | Protein | Reference | |||||
| P1 | F1 | PRPF31 | NM_015629 | c.3G > A | p.(Met1Ile) | this study | - | - | - | |
| P4 | F3 | PDE6B | NM_000283 | c.1107 + 3A > G | p.(?) | [6] | c.1798G > A | p.(Asp600Asn) | [7] | |
| P5 | F4 | BBS2 | NM_031885.3 | c.401C > G | p.(Pro134Arg) | [8] | c.401C > G | p.(Pro134Arg) | [8] | |
| P9 | F7 | RP1 | NM_006269 | c.2219C > G | p.(Ser740 * ) | this study | - | - | - | |
| P46 | F40 | RP1 | NM_006269 | c.2978delC | p.(Ser993Phefs * 20) | this study | - | - | - | |
| P10 | F8 | USH2A | NM_206933 | c.497A > G | p.(Glu166Gly) | this study | c.14977_14978del | p.(Phe4993Profs * 7) | [9] | |
| P12 | F9 | USH2A | NM_206933 | c.9815C > T | p.(Pro3272Leu) | [10] | c.949C > A | p.(Arg317Arg) | [11] | |
| P13 | F10 | CEP290 | NM_025114 | c.5709 + 2T > G | p.(?) | this study | c.384_385del | p.(Asp128Glufs * 17) | [12] | |
| P14 | F11 | USH2A | NM_206933 | c.4732C > T | p.(Arg1578Cys) | [9] | c.14885dup | p.(Glu4963Glyfs * 38) | [13] | |
| P15 | F12 | PRPF31 | NM_015629 | c.690delG | p.(Ile231Serfs*8) | this study | - | - | - | |
| P17 | F13 | USH2A | NM_206933 | c.4717C > T | p.(Gln1573*) | [13] | c.10712C > T | p.(Thr3571Met) | [14] | |
| P18 | F14 | PRPH2 | NM_000322 | c.458A > G | p.(Lys153Arg) | LOVD ‡ | - | - | - | |
| P24 | F20 | CEP290 | NM_025114 | c.1664A > T | p.(Lys555Ile) | this study | c.1092T > G | p.(Ile364Met) | this study | |
| P26 | F22 | RHO | NM_000539 | c.560G > T | p.(Cys187Phe) | this study | - | - | - | |
| P27 | F23 | PEX1 | NM_000466 | c.274G > C | p.(Val92Leu) | [15] | c.2145_2146insTCTCAG | p.(Gln716delinsSerGlnGln) | this study | |
| P29 | F25 | USH2A | NM_206933 | c.3045C > G | p.(His1015Gln) | this study | c.6992G > A | p.(Gly2331Glu) | this study | |
| P30 | F26 | USH2A | NM_206933 | c.2296T > C | p.(Cys766Arg) | [16] | c.2296T > C | p.(Cys766Arg) | [16] | |
| P32 | F28 | USH2A | NM_206933 | c.11713C > T | p.(Arg3905Cys) | [17] | c.9959-1G > C | p.(?) | [18] | |
| P35 | F31 | PDE6B | NM_000283 | c.1798G > A | p.(Asp600Asn) | [7] | c.1798G > A | p.(Asp600Asn) | [7] | |
| P37 | F32 | NR2E3 | NM_014249 | c.119-2A > C | p.(?) | [19] | c.119-2A > C | p.(?) | [19] | |
| P39 | F33 | USH2A | NM_206933 | c.2276G > T | p.(Cys759Phe) | [20] | c.3684T > A | p.(Cys1228 *) | [13] | |
| P47 | F41 | USH2A | NM_206933 | c.953A > G | p.(Tyr318Cys) | LOVD ‡ | c.5776 + 1G > C | p.(?) | this study | |
‡ Leiden Open Variation Database.