Table 3 of
Lee, Mol Vis 2011; 17:3583-3590. Table 3 of
Lee, Mol Vis 2011; 17:3583-3590.
Table 3. Summary of 25 copy number variants in primary congenital glaucoma patients after the exclusion of known CNVs in the Database of Genomic Variants and the CNVs identified in 99 healthy controls.
Case number |
Frequency in case (%) |
Chromosome location |
Chromosome region |
Size (bp) |
CNV |
Mode of inheritance* |
Candidate gene(s) |
|---|---|---|---|---|---|---|---|
| 5 | 5.0 | 1p34.2 | chr1:40,750,196–40,755,665 | 5470 | loss of 1 copy | P | DEM1 |
| 16 | 5.0 | 8q22.1 | chr8:95,459,849–95,465,598 | 5750 | loss of 1 copy | M | RAD54B |
| 7 | 5.0 | 12q24.33 | chr12:131,802,886–131,811,641 | 8756 | loss of 1 copy | P | PGAM5 |
| 6 | 5.0 | 15q21.2 | chr15:50,254,727–50,267,146 | 12420 | loss of 1 copy | P | GNB5 |
| 5 | 5.0 | 15q25.2 | chr15:82,494,744–82,501,742 | 6999 | loss of 1 copy | P | ADAMTSL3 |
| 5 | 5.0 | 1p33 | chr1:47,463,023–47,466,352 | 3330 | gain of 1 copy | D | TAL1 |
| 5, 11, 18 | 15.0 | 2p11.2 | chr2:85,213,649–85,217,093 | 3445 | gain of 1 copy | M, P/M, P | TCF7L1 |
| 15 | 5.0 | 2q24.1 | chr2:158,089,932–158,132,486 | 42555 | gain of 1 copy | P | ACVR1C |
| 5 | 5.0 | 2q35 | chr2:220,201,756–220,202,851 | 1096 | gain of 1 copy | D | SLC4A3 |
| 5, 13 | 10.0 | 2q37.3 | chr2:241,804,281–241,806,159 | 1878 | gain of 1 copy | M, M | ANO7 |
| 18 | 5.0 | 6q14.1 | chr6:79,840,645–79,848,461 | 7817 | gain of 1 copy | P | PHIP |
| 12, 13 | 10.0 | 7q32.1 | chr7:127,456,885–127,463,642 | 6758 | gain of 1 copy† | P, D | LRRC4, SND1 |
| 11, 12, 13, 14, 18 | 25.0 | 8q12.1 | chr8:56,176,574–56,182,718 | 6145 | gain of 1 copy† | P/M, M, D, D, P | XKR4 |
| 5 | 5.0 | 8q21.13 | chr8:80,840,460–80,844,589 | 4130 | gain of 1 copy | M | HEY1 |
| 5, 18 | 10.0 | 9q22.31 | chr9:95,251,169–95,254,542 | 7827 | gain of 1 copy† | M, D | FAM120A, FAM120AOS |
| 3, 5, 10, 12, 13, 18 | 30.0 | 10q23.32 | chr10:93,759,766–93,763,644 | 3879 | gain of 1 copy† | P/M, M, D, M, M, D | BTAF1 |
| 3, 7, 12, 18 | 20.0 | 10q25.2 | chr10:114,698,416–114,703,429 | 5014 | gain of 1 copy | P/M, P, P/M, P | TCF7L2 |
| 5, 18 | 10.0 | 11q13.1 | chr11:65,566,989–65,568,791 | 1803 | gain of 1 copy† | M, D | GAL3ST3 |
| 12 | 5.0 | 11q13.1 | chr11:65,868,765–65,875,077 | 6313 | gain of 1 copy | M | B3GNT1, BRMS1 |
| 5 | 5.0 | 11q13.5 | chr11:75,048,530–75,057,153 | 8624 | gain of 1 copy | D | MAP6 |
| 7, 12, 18 | 15.0 | 11q23.3 | chr11:120,535,111–120,539,731 | 4621 | gain of 1 copy | M, M, M | TECTA |
| 6, 12, 18 | 15.0 | 13q12.13 | chr13:26,231,092–26,233,822 | 2731 | gain of 1 copy | P, P/M, P/M | GPR12 |
| 14 | 5.0 | 16q21 | chr16:56,778,172–56,788,677 | 10506 | gain of 1 copy | D | CSNK2A2 |
| 12 | 5.0 | 16q23.1 | chr16:73,587,930–73,593,272 | 5343 | gain of 1 copy | D | ZNRF1 |
| 14 | 5.0 | 18q11.2 | chr18:18,002,304–18,005,451 | 3148 | gain of 1 copy | D | GATA6 |