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.