Table 1 of Bocquet, Mol Vis 2013; 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.

Bocquet, Mol Vis 2013; 19:2487-2500. http://www.molvis.org/molvis/v19/2487

©2013 Molecular Vision http://www.molvis.org/molvis/

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