Table 3 Genotypes for G843E, S1653Kfs, and S2556C in EYS.

From: A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

 

Controls

Solved cases (N = 227)

Unsolved cases (N = 640)

ToMMo

EYS

nonEYS

With EYS path mut

No EYS path mut

Genotype count (G843E)

     

 REF/REF

4611

(96.6%)

76

(96.2%)

139

(94.6%)

98

(66.7%)

437

(88.6%)

 REF/G843E

161

(3.4%)

3

(3.8%)

8

(5.4%)

48

(32.7%)

44

(8.9%)

 G843E/G843E

1

(0.0%)

0

(0.0%)

0

(0.0%)

1

(0.6%)

12

(2.4%)

Allele count (G843E)

     

 REF

9383

(98.3%)

155

(98.1%)

286

(97.3%)

244

(83.0%)

918

(93.1%)

 G843E

163

(1.7%)

3

(1.9%)

8

(2.7%)

50

(17.0%)

68

(6.9%)

 MAF

0.017

0.019

0.027

0.170

0.069

Genotype count (S1653Kfs)

     

 REF/REF

4,731

(99.1%)

27

(34.2%)

148

(100%)

83

(56.5%)

493

(100%)

 REF/S1653Kfs

42

(0.9%)

29

(36.7%)

0

(0.0%)

64

(43.5%)

0

(0.0%)

 S1653Kfs/S1653Kfs

0

(0.0%)

23

(29.1%)

0

(0.0%)

0

(0.0%)

0

(0.0%)

Genotype count (S2556C)

     

 REF/REF

2949

(61.8%)

62

(78.5%)

84

(56.8%)

50

(34.0%)

152

(31.0%)

 REF/S2556C

1,605

(33.6%)

13

(16.5%)

58

(39.2%)

79

(53.7%)

261

(53.2%)

 S2556C/S2556C

219

(4.6%)

4

(5.1%)

6

(4.1%)

18

(12.2%)

78

(15.9%)

  1. ToMMo51: Normal Japanese population (N = 4773). EYS: retinitis pigmentosa patients genetically solved with biallelic EYS mutations. nonEYS: retinitis pigmentosa patients genetically solved with mutations in genes other than EYS. With EYS path mut: genetically unsolved retinitis pigmentosa patients with a heterozygous deleterious EYS mutation. No EYS path mut: genetically unsolved retinitis pigmentosa patients with no deleterious EYS mutation. The status of EYS mutations was extracted from a previous NGS panel test study11.
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