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. 2013 Dec 8;19:2487–2500.

Table 1. Homozygous regions and candidate genes found in the studied families.

Family # Chromosome Length* SNP/Mb Start Stop RANK Genes
PB15
15
8
97
94,755,230
103,000,000
1


3
20
69
81,385,867
101,821,068
2
IMPG2, BBS3

11
8
48
48,019,397
56,670,113
3


8
6
18
42,604,791
49,328,524
4

PB74
7
2.8
192
14,305,994
17,109,926
1


9
2.6
147
23,912,009
26,502,533
2


11
25.2
110
8,268,949
33,487,251
3
TEAD1, USH1C

6
2.4
104
75,641,951
78,011,282
4


14
24.4
99
33,161,305
57,535,645
5
OTX2

13
20
92
41,472,025
61,458,472
6
RB1

2
11.3
77
229,188,012
240,448,167
7
SAG, KCNJ13

3
30.2
73
86,088,197
116,313,537
8
IMPG2, BBS3

1
2.9
47
49,428,303
52,348,388
9


4
3.6
45
0
3,586,240
10
PDE6B

11
5.6
42
51,538,030
57,168,706
11


19
2.2
25
17,232,499
19,446,936
12


10
5.6
24
37,264,807
42,897,610
13

RP290
4
22
111
164,572,108
1,886,612,779
1


13
24
110
19,611,203
43,979,500
2


4
17
109
14,126,510
31,208,706
3
PROM1

14
18
95
72,775,668
90,693,572
4
BBS8

11
37
78
27,547,379
64,200,379
5
BEST1, ROM1

9
22
71
115,228,455
137,266,704
6


11
16
51
64,202,427
80,653,055
7
BBS1, CABP4, EVR4, MYO7A
RP517
18
10
147
64,702,698
75,485,034
1


10
15
104
102,878,609
124,720,093
2


15
6
99
88,605,547
94,989,511
3
RLBP1

4
27
93
142,603,130
170,091,790
4
LRAT

6
5
93
134,536,698
139,731,589
5
AHI1, PEX7

10
42
92
13,549,280
55,658,110
6
RBP3, PCDH15

10
16
90
73,315,427
90,014,680
7
PCDH21, RGR

2
19
88
215,924,486
243,717,669
8
SAG, KCNJ13

2
7
85
161,288,182
168,767,322
9


7
10
77
139,122,579
149,147,283
10


16
22
68
54,368,954
76,163,081
11
CNGB1, CDH3
RP670
15
20
67
70,670,532
91,626,291
1
RLBP1, NR2E3

12
5
35
33,095,301
38,783,937
2


11
7
28
47,884,847
55,182,977
3

RP745
18
15
131
59,022,364
74,333,187
1


7
13
96
36,733,691
49,999,517
2


5
27
81
38,657,850
65,932,343
3


7
32
74
70,138,345
102,504,683
4
PEX1

7
20
61
50,006,472
70,113,409
5


11
8
34
47,873,883
55,620,859
6


17
17
33
14,152,804
30,823,007
7
HRG4/UNC119
RP819
16
7
145
6,137,184
12,877,511
1


11
9
106
76,325,821
85,436,868
2
MYO7A

3
17
93
100,042,849
116,695,553
3
IMPG2

10
11
89
99,038,933
110,389,800
4
ARL3

5
20
82
72,943,817
92,857,172
5

RP854
8
7
125
16,489,491
23,287,191
1


12
6
113
102,972,070
108,720,576
2


1
9
97
167,407,517
176,453,828
3


8
24
98
102,458,515
126,789,312
4


8
13
96
53,880,054
67,044,043
5
RP1, TTPA

2
7
81
183,870,146
191,325,255
6


2
8
74
26,097,607
34,429,224
7
ZNF513, C2ORF71

5
16
67
38,414,330
54,391,555


RP855
11
12
119
85,869,911
97,383,737
1


15
5
117
33,415,288
38,491,401
2


10
19
114
105,391,725
123,911,345
3


13
6
106
84,581,120
90,263,015
4


6
8
104
117,641,016
125,607,559
5


5
23
103
101,320,305
123,846,658
6


7
15
103
155,645,303
170,683,241
7


18
9
101
38,011,865
47,209,971
8


5
5
101
26,045,009
31,423,339
9


14
14
96
34,194,336
48,552,897
10


4
25
93
111,252,455
136,022,295
11
BBS12

11
10
89
110,685,226
120,548,318
12
MFRP

2
16
88
148,875,566
164,388,639
13


10
29
87
34,317,035
63,401,422
14
RBP3, PCDH15

20
9
87
53,622,497
63,000,000
15
PRPF6

6
20
84
23,895,019
44,154,325
16
TULP1, PRPH2

21
5
73
42,506,107
48,000,000
17


11
48
72
35,991,050
83,847,610
18
BEST1, ROM1, BBS1, CABP4, MYO7A
RP1013
7
15
112
19,386,915
34,648,783
1
KLHL7,PAP1

5
15
110
106,422,649
121,734,393
2


16
15
104
1,889,821
16,730,604
3
ABCC6

8
7
103
25,445,326
32,079,101
4


7
9
92
120,144,923
128,748,534
5
TSPAN12, IMPDH1, OPN1SW

2
36
89
188,652,307
224,429,597
6


8
11
86
58,758,850
69,756,364
7
TTPA

3
53
85
68,243,465
121,132,268
8
BBS3, IMPG2

8
30
85
73,152,837
102,974,357
9
PEX2, CNGB3, C8ORF37

5
48
84
26,788,362
74,365,757
10


7
10
81
137,476,571
147,969,602
11


11
48
70
32,076,832
80,155,054
12
BEST1, ROM1, BBS1, LRP5

2
11
68
23,712,008
34,302,743
13
ZNF513, C2ORF71
RP1077
1
25
106
217,257,837
241,982,430
1


21
21
98
9,764,385
31,185,292
2


4
5
20
48,094,534
53,233,482
3


5
6
16
44,334,983
50,066,049
4


20
5
10
25,506,582
30,680,225
5


16
15
4
31,905,355
46,831,180
6


2
7
3
88,965,501
96,239,773
7


9
33
2
38,703,364
71,244,025
8

RP1324
16
7
100
54,776,161
62,457,005
1
CNGB1, BBS2
RP1361
5
16
112
145,313,228
162,831,477
1
PDE6A

20
11
112
49,172,235
60,352,153
2


16
16
107
65,223,172
81,678,049
3
OPA8, CDH3

8
25
77
37,328,843
63,110,766
4
RP1, ADAM9

20
22
66
22,782,904
45,359,408
5

RP1625
8
18
142
5,057,818
23,559,224
1
RP1L1

1
13
120
58,394,231
72,327,802
2
RPE65

4
5
98
31,636,008
36,732,290
3


7
7
91
123,580,016
131,407,605
4
OPN1SW, IMPDH1

12
13
90
117,118,028
130,497,472
5


2
7
79
233,929,283
241,117,231
6
SAG

8
32
79
40,071,825
72,824,945
7
RP1, TTPA

12
5
30
34,142,799
39,744,369
8


3
5
27
88,365,050
93,558,926
9


7
7
17
56,665,370
63,796,171
10

RP1682
15
13
89
81,632,077
95,169,873
1
RLBP1
5 5 74 172,682,382 177,906,494 2

For each family, homozygous regions were classified according to the size of the region in Mb, and the coverage (number of SNP per Mb) to give a rank for prioritizing the molecular screening. Each region is then defined by its position on the corresponding chromosome (Start and Stop sections). The causative gene was bolded for families with positive molecular diagnosis. *: In Megabase pair.