Table 1 Known Anophthalmia/Microphthalmia Genes Investigated by Next-Generation Sequencing
Gene | Chromosome location | NCBI Reference Sequence (hg19) mRNA | Exon count | Coding exon count | Estimated Mutation Frequency4,5 | Inheritance pattern | Reference |
|---|---|---|---|---|---|---|---|
SOX2 | chr3:182912416-182914917 | NM_003106.2 | 1 | 1 | 10-20% | Autosomal dominant | 6,7 |
GDF6 | chr8:97,223,734-97,242,196 | NM_001001557.2 | 3 | 3 | 8% | Autosomal dominant | 5 |
OTX2 | chr14:56337178-56346937 | NM_021728.2 | 5 | 3 | 3.3% | Autosomal dominant | 8 |
VSX2 | chr14:73775928-73799194 | NM_182894.2 | 5 | 5 | 2% | Autosomal dominant | 9 |
FOXE3 | chr1:47654331-47656311 | NM_012186.2 | 1 | 1 | Rare | Autosomal recessive/ Autosomal dominant | 10 |
CRYBA4 | chr22:25347928-25356636 | NM_001886.2 | 6 | 5 | Rare | Autosomal Dominant | 11 |
PAX2 | chr10:102495458-102579688 | NM_003990.3 | 11 | 11 | Rare | Autosomal dominant | 12 |
PAX6 | chr11:31762916-31796085 | NM_000280.3 | 13 | 10 | Rare | Autosomal dominant | 13 |
SIX3 | chr2:45022541-45025894 | NM_005413.3 | 2 | 2 | Rare | Autosomal dominant | 14 |
BMP4 | chr14:53486205-53491020 | NM_001202.3 | 4 | 2 | Rare | Autosomal dominant | 15 |