Table 2 Additional genes associated with isolated and complex microphthalmia, often with syndromic features, tested by next-generation sequencing
Gene | Cytogenetic location | OMIM# of gene | Associated disease acronym | OMIM# of the disease (where applicable) |
|---|---|---|---|---|
BCOR | Xp11.4 | 300485 | Microphthalmia, syndromic 2 | 300166 |
BMP4 | 14q22.2 | 112262 | Microphthalmia, syndromic 6 | 607932 |
CHD7 | 8q12.2 | 605806 | CHARGE syndrome | 214800 |
COL4A1 | 13q34 | 120130 | Brain small vessel disease with or without ocular anomalies | 607595 |
FREM1 | 9p22.3 | 608944 | Manitoba oculotrichoanal syndrome | 248450 |
HCCS | Xp22.2 | 300056 | Linear skin defects with multiple congenital anomalies 1 | 309801 |
HMGB3 | Xq28 | 300193 | Microphthalmia, syndromic 13 | 300915 |
MAB21L2 | 4q31.3 | 604357 | Microphthalmia, syndromic 14 | 615877 |
NAA10 | Xq28 | 300013 | Microphthalmia, syndromic 1 | 309800 |
OTX2 | 14q22.3 | 600037 | Microphthalmia, syndromic 5 | 610125 |
PAX6 | 11p13 | 607108 | Ocular malformations within the MAC spectrum | — |
PXDN | 2p25.3 | 605158 | Cornea opacification and other ocular anomalies | 269400 |
RARB | 3p24.2 | 180220 | Microphthalmia, syndromic 12 | 615524 |
SMOC1 | 14q24.2 | 608488 | Microphthalmia with limb anomalies | 206920 |
SOX2 | 3q26.33 | 184429 | Microphthalmia, syndromic 3 | 206900 |
TMX3 | 18q22.1 | 616102 | Microphthalmia with coloboma | — |
VAX1 | 10q25.3 | 604295 | Microphthalmia, syndromic 11 | 614402 |
YAP1 | 11q22.1 | 606608 | Ocular coloboma | 120433 |
