Table 1 Summary of pathogenic variants in PAX6, OTX2 and NDP
From: Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma
Gene | Nucleotide change a | Predicted protein change | Region | Status | Ocular phenotype | Other systems | Family history and pathogenic allele status |
|---|---|---|---|---|---|---|---|
PAX6 | c.767T>C | p.(Val256Ala) | Homeodomain | Heterozygous | Bilateral microphthalmia, papillary coloboma, primary aphakia, iris hypoplasia, sclerocornea, congenital glaucoma | Microcephaly, low-set prominent ears | Unaffected father-normal, unaffected mother- mosaic, affected brother- heterozygous |
OTX2 | c.651delC | p.(Thr218Hisfs*76) | C-terminal region | Heterozygous | Bilateral anophthalmia | Short stature, intellectual disability, possible autistic spectrum disorder, cerebral palsy, facial dysmorphism, joint hypermobility, left cryptorchidism, small scrotum | Negative family history; family members not tested |
NDP | c.293 C>T | p.(Pro98Leu) | C-terminal cystine knot-like domain | Hemizygous | Bilateral microphthalmia and sclerocornea | None | Unaffected mother- heterozygous; affected brother- hemizygous |
