Table 2. Homozygous regions and mutations identified in this study.
| Family | No. of affected individuals | SNP array | Number of homozygous regions > 3Mb | Rank | Genomic position (hg18) | Size (Mb) | arRP gene in the region | Mutation (DNA) | Predicted effect (protein) |
|---|---|---|---|---|---|---|---|---|---|
| W09–0036 |
3 |
Affy 5.0 |
0 |
|
|
|
|
|
|
| W09–0037 |
2 |
Affy 5.0 |
1 |
1 |
Chr 1:43.472.727–47.007.137 |
3.5 |
|
|
|
| W09–0038 |
2 |
Affy 5.0 |
3 |
1 |
Chr 2:94.722.52–114.958.2396 |
20.2 |
MERTK |
complex rearrangement |
p.G654AfsX41 |
| |
|
|
|
2 |
Chr 2: 74.821.929–86.961.722 |
12.1 |
|
|
|
| |
|
|
|
3 |
Chr 12: 46.563.980–50.101.308 |
3.5 |
|
|
|
| W09–0039 |
1 |
Affy 5.0 |
0 |
|
|
|
|
|
|
| W09–0040 |
5 |
Affy 5.0 |
0 |
|
|
|
|
|
|
| W09–0041 |
4 |
Ill 6k |
1 |
1 |
Chr 15: 55.310.834–76.576.278 |
21.3 |
NR2E3 |
c.1025T>G |
p.V342G |
| W09–0042 |
2 |
Ill 6k |
5 |
1 |
Chr 1: 88.202.625–114.480.309 |
26.3 |
ABCA4 |
c.302+4A>C |
Altered splicing |
| |
|
|
|
2 |
Chr 13: 97.294.596–113.158.661 |
15.9 |
|
|
|
| |
|
|
|
3 |
Chr 9: 7.717.818–18.877.591 |
11.2 |
|
|
|
| |
|
|
|
4 |
Chr 19: 795.02–10.879.403 |
10.1 |
|
|
|
| |
|
|
|
5 |
Chr 17: 68.734.433–74.980.093 |
6.2 |
PRCD |
|
|
| W09–0044 |
1 |
Affy 5.0 |
0 |
|
|
|
|
|
|
| W09–0045 |
4 |
Affy 5.0 |
3 |
1 |
Chr 7: 25.394.592–32.791.157 |
7.4 |
|
|
|
| |
|
|
|
2 |
Chr 2: 109.814.503–114.973.711 |
5.2 |
MERTK |
c.2487–2A>G |
Altered splicing |
| |
|
|
|
3 |
Chr 1: 49.055.999–52.858.628 |
3.8 |
|
|
|
| W09–0046 |
3 |
Ill 6k |
3 |
1 |
Chr 6: 7.426.927–76.965.256 |
69.5 |
EYS |
c.9082G>T |
p.D3028Y |
|
TULP1 |
|||||||||
| |
|
|
|
2 |
Chr 5: 154.427.149- 164.983.908 |
10.6 |
|||
| |
|
|
|
3 |
Chr 16: 37.354–4.720.263 |
4.7 |
|
|
|
| W09–0047 |
2 |
Affy 5.0 |
2 |
1 |
Chr 5: 139.038.773–163.355.069 |
24.3 |
PDE6A |
c.1675C>A |
p.Y558X |
| W09–0048 |
1 |
Affy 5.0 |
2 |
1 |
Chr 1: 188.030.378–207.318.912 |
19.3 |
CRB1 |
c.3914C>T |
p.P1305L |
| |
|
|
2 |
12 |
Chr 2:82.720.660–101.627.801 |
18.9 |
|
|
|
| W09–0049 |
2 |
Affy 5.0 |
5 |
1 |
Chr 9: 14.485.574–27.392.109 |
12.9 |
|
|
|
| |
|
|
|
2 |
Chr 12: 95.081.092–104.387.559 |
9.3 |
|
|
|
| |
|
|
|
3 |
Chr 2: 113.783.799–121.286.558 |
7.5 |
|
|
|
| |
|
|
|
4 |
Chr 2: 60.823.051–64.299.067 |
3.5 |
FAM161A |
|
|
| |
|
|
|
5 |
Chr 1: 48.779.373–52.133.652 |
3.4 |
|
|
|
| W09–0050 |
2 |
Affy 5.0 |
21 |
1 |
Chr 1: 71.823.794–120.992.603 |
49.2 |
ABCA4, RPE65 |
|
|
| |
|
|
|
2 |
Chr 1: 196.164.119–224.123.536 |
28 |
USH2A |
|
|
| |
|
|
|
3 |
Chr 5: 106.422.150–131.638.131 |
25.2 |
|
|
|
| |
|
|
|
4 |
Chr 13: 30.509.319–52.819.567 |
22.3 |
|
|
|
| |
|
|
|
5 |
Chr 4: 173.631.572–191.167.888 |
17.5 |
|
|
|
| |
|
|
|
6 |
Chr 4: 121.482.239–136.825.720 |
15.3 |
|
|
|
| |
|
|
|
7 |
Chr 1: 148.152.207–161.819.282 |
13.7 |
|
|
|
| |
|
|
|
8 |
Chr 16: 55.072–12.523.392 |
12.5 |
|
|
|
| |
|
|
|
9 |
Chr 17: 6.888–9.800.824 |
9.8 |
PRCD |
|
|
| 10 | Chr 12: 61.88–8.589.738 | 8.5 |
Overview of the homozygous regions per family, and the mutations identified in this study. All genes within the regions have been screened for mutations, and all mutations that have been identified are novel. For family W09–0050, only the 10 largest homozygous regions are depicted.