Table 5.
Common GJA1 mutations with associated eye features.
| Sources | Multiple mutations? | GJA1 mutation | Individuals with GJA1 mutation (confirmed and affected relatives) | Associated eye features | |
|---|---|---|---|---|---|
| Nucleotide | Protein | Total | |||
| Quick and Dobersen 2014; National Center for Biotechnology Information 2020 | Yes | c.605G>A | p.R202H | 1 | Microphthalmia (1) |
| c.717G>A | p.R239R | ||||
|
| |||||
| Paznekas et al. 2009; Paznekas et al. 2003 | No | c.605G>A | p.R202H | 17 | Microphthalmia (1), microcornea (2) |
|
| |||||
| Nishat et al. 2012; Paznekas et al. 2009; Paznekas et al. 2003; and Amador et al. 2008 | No | c.389T>C | p.I130T | 17 | Microphthalmia (4), hypotelorism (6), cataract (1), pale/atrophic optic disc (1), and short palpebral fissures (4) |
|
| |||||
| Park et al. 2019; Hayashi et al. 2014; Paznekas et al. 2009; Debeer et al. 2005; and Paznekas et al. 2003 | No | c.119C>T | p.A40V | 17 | Microphthalmia (9), hypertelorism (3), hypotelorism (4), short axial length (4), cataract (1), microcornea (8), thick cornea (4), macular hypoplasia (1), shallow anterior chamber (4), myopia (4), strabismus (6) (1 esotropic), glaucoma (6), and epicanthus (3) |