Table 2 of
Cho, Mol Vis 2012; 18:2012-2021. Table 2 of
Cho, Mol Vis 2012; 18:2012-2021.
Table 2. Corneal dystrophy phenotypes and mutation analysis in TGFBI (5q31).
| Corneal dystrophy |
Exon |
Nucleotide change |
AA change |
Number of families |
Number of individuals |
De novo |
|---|---|---|---|---|---|---|
| TBCD | 12 | c.1664G>A | R555Q | 6 | 4 | |
| GCD2 | 4 | c.371G>A | R124H | 61 | 80 | |
| LCD1 | 4 | c.370C>T | R124C | 2 | 5 | |
| Variant LCD | 12 | c.1580T>G | L527R | 1 | ||
| 12 | c.1625C>G | P542R | 1 | Yes | ||
| Total | 71 | 89 |