Table 1.
Mutations in the RS1 gene and clinical features in patients with congenital retinoschisis
| Family no | Patient ID | Kinship | Age | Famial/ sporadic | Mutation | Ocular features | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Exon/intron | Nucleotide change (NM_000330.3) | Amino acid change | Novel/ reported (ID) | Visual acuity | Refraction of spherical equivalent (D) | Retinoschisis | Electroretinogram | Comment | ||||||||
| Foveal | Peripheral | ERG a-amplitude (μV) | b/a ratio | Light intensity (cds/m2) | ||||||||||||
| 1 | KS0001 | Proband | 4mo | Sporadic | 1 | c.35T>C | p.Leu12Pro | Novel | 0.02/NA | −0.375/+0.375 | −/ + | +/+ | 46/38.3 | 0.61/0.66 | 30 | B) Vx |
| 2 | F111 | Proband | 2 | Sporadic | 1 | c.38T>C | p.Leu13Pro | rs104894935 | NA/NA | NA/NA | + / + | +/+ | NA/NA | NA/NA | R) VH | |
| 3 | J0968 | Proband | 36 | Sporadic | 1 | c.49G>T | p.Glu17* | Novel | 0.8/0.3 | + 0.625/−0.375 | + / + | −/− | 312.5/226 | 0.78/0.93 | 3 | |
| 4 | RS30-1 | Proband | 8 | Sporadic | 2–3 | exon2-3 del | Novel | 0.3/0.3 | + 4/ + 3.625 | + / + | + / + | 227/167 | 0.91/0.95 | 30 | L) Vx | |
| 5 | J0913 | Proband | 6 | Sporadic | IVS2 | c.78+2T>C | USD | Novel | 0.5/0.7 | + 1.125/ + 0.75 | + / + | + / + | 267.5/NA | 0.56/NA | 200 | |
| 6 | RS13-1 | Proband | 4 | Familial | 3 | exon3 del | Undetermined | 0.4/0.2 | + 5.5/ + 2 | +/ + | + / + | 490/416 | 1.11/0.97 | b | L) VH, Vx, B) retinal fold | |
| 6 | RS13-2 | Sibling | 11 | Familial | 3 | exon3 del | Undetermined | 1.2/1.2 | + 0.75/ + 0.75 | +/ + | −/− | NA/NA | NA/NA | |||
| 7 | RS14-1 | Proband | 3 | Sporadic | 3 | c.98G>A | p.Trp33* | CM141023a | 0.6/0.06 | + 5.25/ + 6.5 | + / + | + /+ | 345/274 | 0.96/1.2 | b | |
| 8 | RS01-1 | Proband | 16 | Familial | 3 | c.175T>G | p.Cys59Gly | Novel | 0.5/0.02 | 0/−7.5 | + / + | + /+ | 467/360 | 0.55/0.7 | 3 | L) VH |
| 8 | RS01-2 | Sibling | 23 | Familial | 3 | c.175T>G | p.Cys59Gly | Novel | 0.5/0.5 | + 0.5/ + 0.5 | −/− | −/− | 314/331 | 0.3/0.25 | 3 | |
| 8 | RS01-3 | Sibling | 20 | Familial | 3 | c.175T>G | p.Cys59Gly | Novel | 0.4/0.4 | −0.25/0 | + / + | + /+ | 375/374 | 0.58/0.47 | 3 | |
| 9 | RS11-1 | Proband | 12 | Familial | 3 | c.175T>G | p.Cys59Gly | Novel | 0.05/0.8 | + 2/−0.25 | + / + | + /+ | 383/403 | 0.74/0.83 | 3 | R) Retinal hole |
| 9 | RS11-2 | Sibling | 7 | Familial | 3 | c.175T>G | p.Cys59Gly | Novel | 0.4/0.3 | + 0.5/−0.25 | + / + | −/ + | 457/401 | 0.9/0.76 | 3 | |
| 10 | J0381 | Proband | 17 | Sporadic | 3 | c.185_186insT | p.Glu62Aspfs*24 | Novel | 0.3/0.3 | −3/−2.5 | +/ + | −/− | 129/146 | 1.11/1.16 | 3 | |
| 11 | J0673 | Proband | 13 | Sporadic | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.8/0.7 | −2/−2 | + / + | + /+ | 185/195 | 0.79/0.76 | 3 | |
| 12 | J1033 | Proband | 13 | Sporadic | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.5/0.9 | −1/−0.5 | + / + | −/− | 229/252 | 1.31/1.28 | 3 | |
| 13 | J1062 | Proband | 32 | Sporadic | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.5/0.4 | −2.375/ + 0.875 | + / + | + /+ | 119.6/134.3 | 0.76/0.86 | 3 | |
| 14 | RS04-1 | Proband | 16 | Familial | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.3/0.15 | −1.75/−2.5 | + / + | + /+ | 362/344 | 0.55/0.67 | 200 | |
| 14 | RS04-1 | Sibling | 9 | Familial | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.7/0.06 | −1.25/NA | + / + | + /+ | NA/NA | NA/NA | ||
| 15 | KINKI-113 | Proband | 50 | Sporadic | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.2/0.2 | −2.75/−1.625 | N/N | N/N | 370/370 | 0.78/0.8 | 30 | |
| 16 | NMSCHH011-01 | Sibling | 42 | Familial | 4 | c.214G>A | p.Glu72Lys | rs104894928 | CF/0.2 | NA/ + 0.25 | N/ + | N/+ | NA/344.5 | NA/0.76 | 10 | |
| 16 | NMSCHH011-02 | Proband | 47 | Familial | 4 | c.214G>A | p.Glu72Lys | rs104894928 | 0.15/0.3 | + 0.25/ + 0.75 | −/− | + /+ | 308/243 | 1.07/1.18 | 10 | |
| 17 | RS12-1 | Proband | 3 | Sporadic | 4 | c.218C>T | p.Ser73Leu | Novel | NA/NA | NA/NA | + / + | −/+ | ~0/~0 | NA/NA | L) retinal degeneration | |
| 18 | J0256 | Proband | 18 | Sporadic | 4 | c.266A>G | p.Tyr89Cys | rs61752060 | 0.4/0.08 | + 0.75/ + 1.5(IOL) | + / + | + /+ | 250/168 | 0.72/0.61 | 3 | L) Vx, IOL |
| 19 | J1224 | Proband | 6 | Sporadic | 4 | c.266A>G | p.Tyr89Cys | rs61752060 | 0.08/0.5 | + 6/ + 6 | + / + | + /- | NA/NA | NA/NA | ||
| 20 | Teik1051 | Proband | 49 | Sporadic | 4 | c.266A>G | p.Tyr89Cys | rs61752060 | 0.1/0.1 | + 5/ + 6 | −/− | + /+ | 309.5/137 | 0.59/0.53 | 10 | L) retinal degeneration |
| 21 | Teik1103 | Proband | 10 | Sporadic | 4 | c.266A>G | p.Tyr89Cys | rs61752060 | 0.03/0.6 | + 2.75/ + 0.25 | + / + | −/− | 38.3/35.1 | 1.25/1.12 | 3 | |
| 22 | KINKI-107-1 | Proband | 26 | Familial | 4 | c.267T>A | p.Tyr89* | rs61752061 | 0.4/0.3 | + 3/ + 2.75 | + / + | + /+ | 420/400 | 0.71/0.7 | 30 | |
| 22 | KINKI-107-2 | Sibling | 25 | Familial | 4 | c.267T>A | p.Tyr89* | rs61752061 | 0.3/0.3 | −0.5/−1 | + / + | −/− | 300/280 | 1.27/1.29 | 30 | |
| 23 | RS21-1 | Proband | 11 | Sporadic | 4 | c.285delG | p.Trp96Glyfs*30 | Novel | 0.2/0.6 | −1.5/0.75 | + / + | + /+ | 503/na | 0.75/NA | 200 | R) Vx |
| 24 | RS16-1 | Proband | 6 | Sporadic | 4 | c.301G>C | p.Ala101Pro | rs61752066 | 0.5/0.7 | + 0.75/ + 1 | + / + | −/− | NA/345 | NA/0.63 | 10 | B) ODRL |
| 25 | RS17-1 | Proband | 4 | Sporadic | 4 | c.304C>T | p.Arg102Trp | rs61752067 | 0.03/0.15 | NA/ + 3.125 | + / + | + /+ | 301/289 | 0.83/1.06 | b | |
| 26 | RS31-1 | Proband | 3 | Familial | 4 | c.304C>T | p.Arg102Trp | rs61752067 | 0.4/NA | + 1.375/NA | + / + | + /+ | 346/349 | 0.96/0.96 | 200 | L) Vx |
| 26 | RS31-2 | Sibling | 2mo | Familial | 4 | c.304C>T | p.Arg102Trp | rs61752067 | NA/NA | NA/NA | + / + | −/− | NA/NA | NA/NA | ||
| 27 | Teik1153 | Proband | 45 | Sporadic | 4 | c.304C>T | p.Arg102Trp | rs61752067 | 0.032/0.5 | + 6/ + 2 | 1/ + | −/− | 146.5/304 | 0.69/0.62 | b | |
| 28 | J1330 | Proband | 5 | Sporadic | 4 | c.305G>A | p.Arg102Gln | rs61752068 | 0.4/0.4 | + 9.5/ + 8 | + / + | + /+ | 462/607.8 | 0.79/0.74 | 200 | |
| 29 | RS23-1 | Proband | 1 | Familial | 4 | c.305G>A | p.Arg102Gln | rs61752068 | 0.7/0.06 | + 6.625(IOL)/ + 5(IOL) | + / + | + /+ | 43.8/43.8 | 0.55/0.69 | 200 | L) Vx, IOL |
| 29 | RS23-2 | Sibling | 4 | Familial | 4 | c.305G>A | p.Arg102Gln | rs61752068 | 0.3/0.12 | NA/NA | + / + | + /+ | NA/NA | NA/NA | ||
| 30 | RS08-1 | Proband | 2 | Sporadic | 4 | c.326G>C | p.Gly109Ala | Novel | 0.2/0.3 | + 2.25/ + 2.75 | + / + | + /+ | 184/208 | 0.87/0.77 | b | R) VH, Vx |
| 31 | MIYA003-1 | proband | 16 | Familial | 4 | c.330T>A | p.Cys110* | rs1801161 | 0.7/1.2 | −0.5/0 | + /+ | −/− | 377.8/302.3 | 0.78/0.72 | 3 | B) retinal fold, Vx, glaucoma |
| 31 | MIYA003-2 | Sibling | 14 | Familial | 4 | c.330T>A | p.Cys110* | rs1801161 | 0.9/0.7 | −0.25/ + 0.75 | + /+ | −/− | 87.8/83 | 0.77/0.74 | 3 | |
| 32 | RS18-1 | Proband | 8 | Familial | 5 | c.404G>A | p.Gly135Glu | Novel | 0.4/0.3 | + 4.475/ + 4.625 | + / + | −/− | NA/NA | NA/NA | ||
| 33 | J0690 | Proband | 25 | Familial | 5 | c.417G>T | p.Gln139His | Novel | 0.3/0.4 | −0.75/ + 0.25 | −/− | −/− | NA/NA | NA/NA | B) ODRL | |
| 34 | J0852 | Proband | 7 | Sporadic | 5 | c.422G>A | p.Arg141His | rs61752159 | 0.7/0.4 | + 1.5/ + 1.875 | + / + | −/− | NA/NA | NA/NA | ||
| 35 | MIE52 | Proband | 53 | Familial | 5 | c.438G>C | p.Glu146Asp | rs61753163 | 0.5/0.4 | −0.5/0 | −/− | −/− | 270/294 | 0.81/0.71 | 30 | B) macular degeration |
| 36 | J0892 | Proband | 19 | Sporadic | IVS5 | c.522+1G>A | USD | rs281865348 | 0.4/0.3 | + 4.25/ + 4.625 | + / + | + /+ | 172.1/130.6 | 0.45/0.5 | 3 | |
| 37 | NHO1025 | Proband | 54 | Sporadic | IVS5 | c.523-1G>A | USD | Novel | 0.2/0.15 | −3.5/−4.125 | + / + | −/− | 343.25/391.25 | 0.9/0.93 | 10 | |
| 38 | RS25-1 | Proband | 8 | Sporadic | 6 | c.544C>T | p.Arg182Cys | rs61753171 | 0.1/1.2 | + 2.625/−0.125 | + / + | + /+ | 283/318 | 0.74/0.85 | 200 | R) Vx |
| 39 | RS26-1 | Proband | 3mo | Sporadic | 6 | c.544C>T | p.Arg182Cys | rs61753171 | 0.5/0.2 | + 1(IOL)/−1(IOL) | + / + | + /+ | 175.5/200.8 | 0.69/0.64 | 30 | R) Vx IOL |
| 40 | RS27-1 | Proband | 9mo | Sporadic | 6 | c.544C>T | p.Arg182Cys | rs61753171 | 0.3/0.3 | −0.25/−2.75(aphakia) | + / + | + /+ | NA/NA | NA/NA | L) Vx | |
| 41 | J1461 | Proband | 38 | Sporadic | 6 | c.544C>T | p.Arg182Cys | rs61753171 | 0.4/0.4 | −6.5/−7.125 | + / + | + /+ | 360.5/348.3 | 0.78/0.68 | 200 | |
| 42 | KIN | Proband | 33 | Sporadic | 6 | c.574C>T | p.Pro192Ser | rs61753174 | 0.8/0.9 | −0.225/−0.25 | + / + | −/− | 290/280 | 0.86/0.82 | 30 | |
| 43 | RS07-1 | Proband | 16 | Sporadic | 6 | c.589C>T | p.Arg197Cys | rs281865354 | 0.1/0.09 | + 10/ + 9 | −/− | + /+ | 292/237 | 1/0.47 | 200 | |
| 44 | MIE49 | Proband | 43 | Sporadic | 6 | c.589C>T | p.Arg197Cys | rs281865354 | 0.2/0.3 | + 2/ + 1.5 | + / + | −/− | 290/280 | 0.45/0.5 | 30 | |
| 45 | RS32-1 | Proband | 5mo | Sporadic | 6 | c.589C>T | p.Arg197Cys | rs281865354 | Follow/Follow | NA/NA | + / + | + /+ | 257/313 | 0.95/0.74 | 200 | B) VH, R) Vx |
| 46 | RS10-1 | Proband | 28 | Sporadic | 6 | c.590G>A | p.Arg197His | rs281865355 | 0.06/0.08 | NA/NA | + / + | +/+ | NA/NA | NA/NA | ||
| 47 | RS19-1 | Proband | 43 | Familial | 6 | c.598C>T | p.Arg200Cys | rs281865357 | 0.2/0.05 | + 2.5/ + 2.5 | + / + | + /+ | 281/355 | 1.35/0.69 | b | |
| 48 | RS15-1 | Proband | 6 | Sporadic | 6 | c.599G>A | p.Arg200His | rs281865358 | 0.7/0.7 | + 0.5/−0.575 | + / + | −/− | 273.5/248 | 0.83/0.72 | b | |
| 49 | NTMC218 | Prpband | 43 | Sporadic | 6 | c.599G>A | p.Arg200His | rs281865358 | 0.1/0.1 | + 0.25/ + 0.25 | + / + | + /+ | 268/175.3 | 0.29/0.86 | 10 | B) Retinal hole |
| 50 | RS29-1 | Proband | 1 | Sporadic | 6 | c.608C>T | p.Pro203Leu | rs104894930 | 0.4/NLP | NA/NA(aphakia) | + / + | + /+ | NA/NA | NA/NA | L) proliferative vitreoretinopathy | |
| 51 | J0903 | Proband | 52 | Sporadic | 6 | c.608C>T | p.Pro203Leu | rs104894930 | 0.5/0.3 | −1.125/−1.25 | −/− | −/− | 174.3/292 | 0.83/0.77 | 3 | B) macular degeration |
| 52 | J0371 | Proband | 57 | Sporadic | 6 | c.625C>T | p.Arg209Cys | rs281865361 | CF/0.01 | NA/0.875 | + / + | −/− | 114/218 | 1.25/0.67 | 3 | |
| 53 | J0640 | Proband | 31 | Sporadic | 6 | c.625C>A | p.Arg209Ser | Novel | 0.3/1.2 | −1/−0.5 | + /− | −/− | 295/279 | 0.93/0.99 | b | |
| 54 | RS06-1 | Proband | 49 | Sporadic | 6 | c.638G>A | p.Arg213Gln | rs281865364 | 0.15/0.04 | −0.5/0 | −/− | + /+ | 312/332 | 0.77/0.59 | b | |
| 55 | RS05-1 | Proband | 7 | Sporadic | 6 | c.657C>G | p.Cys219Trp | CM101549a | 0.3/0.3 | + 0.25/−0.5 | −/− | + /+ | 344/400 | 0.69/0.71 | b | |
| 56 | MIYA020-1 | proband | 9 | Familial | 6 | c.667T>C | p.Cys223Arg | rs104894929 | 0.4/0.5 | −1/−1.5 | + / + | +/+ | 436/399.5 | 0.53/0.52 | 3 | L) retinal fold, Vx |
| 56 | MIYA020-2 | Sibling | 12 | Familial | 6 | c.667T>C | p.Cys223Arg | rs104894929 | 0.4/0.4 | −1.5/−1 | + /+ | −/+ | 342/382.8 | 0.55/0.52 | 3 | L) retinal fold, Vx |
B both eyes, CF counting finger, L left eye, IOL intraocular lens, mo month-old, NA not available, ODRL Oguchi disease-like retinal reflex, R right eye, USD undetermined splicing defect, VH vitreous hemorrahge, Vx vitrectomy, + present, − absent
aSNP (rs) ID is unavailable and ID of the Human Gene Mutation Database is shown
b20J (data are not interchangable with unit of cds/m2)