Table I.
Eye findings in patients with biallelic, deleterious SPINT2 sequence variants
| Nucleotide Alteration (NM_ 021102.3) | Protein alteration | Protein domain | Ocular Findings | Reference |
|---|---|---|---|---|
| c.2T>C | removal start codon | Kunitz inhibitor type I domain | Superficial punctate keratitis | Salomon et al., 2014 |
| c.172dupG | p.(Val58Glyfs*3) | Kunitz inhibitor type I domain | Superficial punctate keratitis, hypertelorism | Salomon et al., 2014 |
| c.247G>T | p.(Glu83*) | Kunitz inhibitor type I domain | Superficial punctate keratitis | Salomon et al., 2014 |
| c.337+2T>C | Corneal erosions | Heinz-Erian et al., 2009 | ||
| c.442C>T | p.(Arg148Cys) | Kunitz inhibitor type I domain | Superficial punctate keratitis | Salomon et al., 2014 |
| c.488A>G | p.(Tyr163Cys) | Corneal erosions, lacrimal duct imperforation, optic nerve coloboma | Heinz-Erian et al., 2009; Sivagnanam et al., 2010; Salomon et al., 2014 | |
| c.502G>A | p.(Gly168Ser) | Kunitz inhibitor type I domain | Superficial punctate keratitis | Salomon et al., 2014 |
| c.553+2T>A | Corneal erosions | Heinz-Erian et al., 2009 | ||
| c.593-1G>A | Corneal erosions, hypertelorism | Heinz-Erian et al., 2009 |