Table 1. Causal and likely causal mutations identified in the 68 characterized RP cases, including 2 positive controls and 66 sRP individuals.
| ID N° | Gene | Allele 1 |
Allele 2 |
Family Segr. (Size) | ||||
|---|---|---|---|---|---|---|---|---|
| cDNA | Protein | Ref. | cDNA | Protein | Ref. | |||
| Mutations in autosomal recessive genes | ||||||||
| 4 | ABCA4 | c.52C>T | p.R18W | 34 | c.1222C>T | p.R408* | 35 | Yes (3) |
| 84 | ABCA4 | c.3386G>T | p.R1129L | 30 | c.3386G>T | p.R1129L | 30 | NA |
| 51 | BBS2 | c.1176_1184del | p.N393_T395del | This study | c.1175G>A | p.G392E | This study | NA |
| 100 | C2orf71 | c.3099_3100insCAGG | p.V1034fs | ExAC | c.3099T>C | p.P1033P | ExAC | NA(†) |
| 27 | CEP290 | c.4393C>T | p.R1465* | 36 | c.4705-1G>T | splice site | 4 | Yes (6) |
| 61 | CEP290 | c.6604delA | p.I2202fs | 37 | c.6604delA | p.I2202fs | 37 | Yes (3) |
| 93 | CEP290 | c.7328_7332delAGAAG | p.E2443fs | 38 | c.2991+1655A>G | deep intronic | 39 | NA(†) |
| 119 | CEP290 | c.4028delA | p.K1343fs | 37 | c.2929A>G | p.R977G | ExAC | NA |
| 2 | CERKL | c.769C>T | p.R257* | 40 | c.769C>T | p.R257* | 40 | Yes (4) |
| 53 | CERKL | c.769C>T | p.R257* | 40 | c.769C>T | p.R257* | 40 | NA |
| 55 | CERKL | c.769C>T | p.R257* | 40 | c.769C>T | p.R257* | 40 | NA |
| 14 | CRB1 | c.2227delG | p.V743fs | 41 | c.3299T>C | p.I1100T | 42 | Yes (3) |
| 24 | CRB1 | c.613_619del | p.I205fs | 43 | c.2843G>A | p.C948Y | 44 | Yes (3) |
| 37 | CRB1 | c.613_619del | p.I205fs | 45 | c.498_506del | p.I167_G169del | 45 | NA |
| 44 | CRB1 | c.2290C>T | p.R764C | 44 | c.2290C>T | p.R764C | 44 | NA |
| 45 | CRB1 | c.848+1G>A | splice site | This study | c.848+1G>A | splice site | This study | NA |
| 85 | CRB1 | c.4006T>A | p.L1336M | This study | c.4082T>A | p.L1361Q | This study | NA |
| 56 | EYS | c.35T>C | p.M12T | 46 | c.35T>C | p.M12T | 46 | NA |
| 115 | GPR98 | c.13757A>T | p.E4586V | CSVS | c.7176C>T | p.S2392S | 47 | NA(†) |
| 12 | GUCY2D | c.3119G>A | p.R1040Q | This study | c.3119G>A | p.R1040Q | This study | Yes (4) |
| 60 | MYO7A | c.1993A>G | p.I665V | This study | c.4008delG | p.E1337fs | This study | Yes (5) |
| 23 | PDE6B | c.385G>A | p.E129K | This study | c.385G>A | p.E129K | This study | Yes (4) |
| 81 | PDE6B | c.984delG | p.V329fs | This study | c.984delG | p.V329fs | This study | NA |
| 122 | PROM1 | c.1984-1G>T | Splice site | 48 | c.1984-1G>T | splice site | 48 | Yes (4) |
| 95 | RDH12 | c.278T>C | p.L93P | 49 | c.464C>T | p.T155I | 50 | NA |
| 10 | RP1 | c.1625C>G | p.S542* | 54 | c.5881C>T | p.Q1961* | ExAC | Yes (3) |
| 49 | RP1 | c.1625C>G | p.S542* | 54 | c.C1625G | p.S542* | 51 | NA |
| 17 | USH2A | c.1391G>A | p.R464H | This study | c.13822C>T | p.R4608* | 52 | Yes (5) |
| 36 | USH2A | c.2276G>T | p.C759F | 53 | c.908G>A | p.R303H | 54 | Yes (3) |
| 46 | USH2A | c.2276G>T | p.C759F | 53 | c.12294+1G>A | splice site | This study | NA |
| 66 | USH2A | c.2299delG | p.E767fs | 55 | c.908G>A | p.R303H | 54 | NA |
| 69 | USH2A | c.2299delG | p.E767fs | 55 | c.12371C>G | p.P4124R | This study | NA |
| 71 | USH2A | c.7525C>T | p.R2509W | 56 | c.13576C>T | p.R4526* | 57 | NA |
| 73 | USH2A | c.2276G>T | p.C759F | 53 | c.920_923dup | p.H308fs | 58 | NA |
| 74 | USH2A | c.2276G>T | p.C759F | 53 | c.4645C>T | p.R1549* | 59 | NA |
| 79 | USH2A | c.12575G>A | p.R4192H | 60 | c.1841-2A>G | — | 42 | NA |
| 87 | USH2A | c.2276G>T | p.C759F | 53 | c.13808A>C | p.H4603P | This study | Yes (5) |
| 103 | USH2A | c.11156G>A | p.R3719H | 61 | c.12569T>A | p.V4190E | This study | NA |
| 108 | USH2A | c.908G>A | p.R303H | 54 | c.10403C>T | p.P3468L | This study | NA |
| 114 | USH2A | c.10712C>T | p.T3571M | 62 | c.10712C>T | p.T3571M | 62 | NA |
| 101 | ZNF408 | c.1342C>T | p.R448C | ExAC CSVS | c.1572C>A | p.Y524* | This study | NA |
| Mutations in autosomal dominant genes | ||||||||
| 7 C+ | PRPF8 | c.6994dupG | p.D2332fs | 11 | Yes(#) | |||
| 8 C+ | RHO | c.(937–2_944)del | Splice site | 12 | Yes | |||
| 15 | RHO | c.403C>T | p.R135W | 63 | Yes(#) (6) | |||
| 68 | RHO | c.316G>A | p.G106R | 64 | NA | |||
| 33 | CRX | Deletion ex3–4: c.(100+1_101–1)_(*1097_?)del | Unable to predict | 11 | NA | |||
| 48 | FSCN2 | c.908G>A | p.C303Y | ExAC | NA(†) | |||
| 39 | GUCY2D | c.160T>A | p.F54I | This study | NA(†) | |||
| 83 | GUCY2D | c.1912C>A | p.L638M | This study | NA(†) | |||
| 35 | PDE6B | c.754G>A | p.D252N | This study | NA(†) | |||
| 112 | PDE6B | c.263A>G | p.Q88R | This study | NA(†) | |||
| 102 | PRPF31 | c.238+1G>A | Splice site | This study | NA(†) | |||
| 104 | PRPF8 | c.6926A>G | p.H2309R | 65 | NA(†) | |||
| 107 | RP1 | c.4780T>C | p.Y1594H | This study | NA(†) | |||
| 50 | TOPORS | c.2524dupA | p.T842fs | This study | NA(†) | |||
| 22 | PROM1 | c.1551A>G | p.E517E | This study | Yes(†) (4) | |||
| 91 | PROM1 | c.1584G>A | p.L528L | This study | NA(†) | |||
| 76 | PRPF31 | c.789G>A | p.S263S | CSVS | NA(†) | |||
| 97 | PRPF31 | c.417C>A | p.V139V | This study | NA(†) | |||
| Mutations in X-Linked genes | ||||||||
| 29 | RPGR | c.739C>T | p.Q247* | This study | Yes (4) | |||
| 42 | RPGR | c.888_889delAA | p.I297fs | 66 | NA | |||
| 59 | RPGR | c.2257_2260del | p.G753fs | 67 | Yes (4) | |||
| 11 | CHM | Deletion ex3–9: c.(116+1_117–1)_(1244+1_1245–1)del | Unable to predict | This study | Yes (4) | |||
| 94 | CHM | c.315-2A>G | Splice site | This study | NA | |||
| 65 (F) | OFD1 RS1 | Large deletion Chr X (p22.2–p22.13) | Unable to predict | This study | NA | |||
| 116(F) | CHM | c.238C>T | p.L80F | 68 | NA | |||
| 70(F) | RP2/RPGR | RP2:c.995C>T | p.T332M | ExAC | RPGR: c.347_349delAAG | p.E116del | This study | NA(†) |
| 78(F) | RPGR | c.619+1 G>T | Splice site | This study | Yes (2) | |||
(C+): positive controls. CSVS: Variant present in the Ciberer Spanish Variant Server. ExAC: Variant present in the Exome Aggregation Consortium; EVS: Variant present in the Exome Variant Server; (F): Female (X-linked dominant); Size: Number of members of the family included the index patient. NA: No additional family members available; (#): de novo mutation; (†): Likely solved families, further studies needed.