TABLE 2.
Single nucleotide polymorphism (SNP) array results in 16 patients with microphthalmia, anophthalmia and coloboma (MAC)
| Patient | Consan- guinity | Coefficient of in-breeding (F) | ROH (Mb) | Copy number variants GRCh37/hg19 | CNV size | Interpretation by testing laboratory | Protein-coding genes (OMIM) |
|---|---|---|---|---|---|---|---|
| EG15_1 | Yes; degree unspecified | – | 16 | – | – | – | – |
| EG16_1 | first cousins | 3/32 | 288 | 6q21(110023322_110070936)×1 | 47.6 kb | Likely pathogenic | FIG4 exons 2–10 |
| EG17_1 | first cousins | 11/64 | 503 | – | – | – | – |
| EG18_1 | first cousins | 1/64 | 64 | Xq21.1(80855919_81855868)×3 | 1 Mb | Likely benign | – |
| EG20_1 | first cousins | 1/32 | 112 | – | – | – | – |
| EG21_1 | first cousins | 1/16 | 166 | 3p12.2(82316849_83126828)×3 | 0.81 Mb | Likely benign | – |
| EG22_1 | first cousins | 3/32 | 255 | – | – | – | – |
| EG25_1 | No | – | – | 6q26 (162696517_162792379)×1/17p11.2p11.1 (21470731_22213908)×3 | 96 kb/0.743 Mb | VUS/ VUS, Likely benign | – |
| EG26_1 | Yes; degree unspecified | 3/32 | 263 | 11p15. (4309990_4712353)×1 | 0.402 Mb | Likely benign | TRIM21, TRIM6, OR51E1, R51E2 |
| EG29_1 | first cousins | 1/32 | 94 | Xq21.31q21.32(91546790_92620821)×3 | 1.074 Mb | VUS | PCDH11X |
| EG37_1 | second cousins | 1/64 | 58 | – | – | – | – |
| EG38_1 | first cousins | 1/32 | 111 | – | – | – | – |
| EG40_1 | first cousins | 1/16 | 178 | – | – | – | – |
| EG41_1 | first cousins | 1/32 | 112 | – | – | – | – |
| EG42_1 | first cousins | 3/32 | 271 | 2q14.3(122777669_123102720)×1/9q11(27801814_28492962)×3 | 0.325 Mb/0.691 Mb | VUS, Likely benign/VUS, Likely benign | – |
| EG47_1 | first cousins | 1/32 | 103 | – | – | – | – |
Abbreviations: CNV, copy number variant; kb, kilobases; Mb, megabases; OMIM, Online Mendelian Inheritance in Man; ROH, regions of homozygosity; VUS, variant of unknown significance.