Table 2 List of PAX6 mutations causing cataract including spectrum of other eye anomalies.
From: Variants in PAX6, PITX3 and HSF4 causing autosomal dominant congenital cataracts
S.no | Origin | HGVSc | HGVSp | Phenotype | Reference |
|---|---|---|---|---|---|
1. | America | c.388 C>T c.1058 C>G | p.Arg130*, p.Ser353* compound heterozygous | Aniridia, nystagmus, foveal hypoplasia, congenital lamellar cataract, late onset corneal dystrophy | Glaser et al. 1994 |
2. | France | c.137 T>C | p. Leu46Pro | Bilateral microphthalmia, nystagmus and cataract | Dansault et al. 2007 |
3. | France | c.143delG | P. Val48fsX53 | bilateral aniridia associated with congenital cataract, foveal hypolasia, and nystagmus | Dansault et al. 2007 |
4. | America | c.112 C>T | p.Arg38Trp | Microcornea, cataract | Solomon et al. 2009 |
5. | France | c.718 C>T | p.Arg240*Ter | Aniridia, congenital cataract | Brémond-Gignac et al. 2010 |
6. | China | c.113_129del17 | p.Arg38ProfsX12 | Aniridia, congenital cataract | Cai F et al. 2010 |
7. | UK | c.227 C>G | p.Pro76Arg | Nystagmus, foveal hypoplasia and presenile cataract | Thomas et al. 2014 |
8. | South Africa | c.622 G>A | p.Arg208Thr | Coloboma, nystagmus, variable cataract | Goolam et al. 2018 |
9. | UK | c.184 G>A | p.Val62Met | Congenital cataract, congenital nystagmus | Present study 2021 |
