Table 2 of Yang, Mol Vis 2010; 16:1186-1193. Table 2 of Yang, Mol Vis 2010; 16:1186-1193.
Table 2. TGFBI mutations and phenotypes of patients in 61 families and 3 sporadic cases from Chinese origin.
| Corneal phenotype |
Mutation |
Exon |
Numbe of families |
Number of patients (Male/Female) |
Reference |
|---|---|---|---|---|---|
| GCD1 | R555W | 12 | 17 | 92 (37/65) | [10-12,17,18,23,28], This study |
| A546D | 12 | 1 | 10 (6/4) | [23] | |
| GCD2 | R124H | 4 | 17 | 65 (32/33) | [10-12,17,24,24,25], This study |
| R124H+c.Δ307–308CT | 4 | 1 | [9] | ||
| LCD1 | R124C | 4 | 12 | 89 (43/46) | [15,16,21,25,31], This study |
| Variant LCD | H626R | 14 | 3 | 14 (7/7) | [15,25], This study |
| V505D | 11 | 1 | 10 (4/6) | [14] | |
| T538P | 12 | 1 | 3 (1/2) | [16] | |
| V625D | 14 | 1 | 2 (1/1) | [20] | |
| Δ613–616VAEP | 14 | 1 | 2 (1/1) | This study | |
| I522N | 12 | 1 | 4 (1/3) | [29] | |
| P501T | 11 | 1 | [16] | ||
| R514P+F515L | 11 | 1 | 5 (4/1) | [31] | |
| A546T | 12 | 1 | [30] | ||
| H572R | 13 | 1 | 3 (2/1) | [31] | |
| CDRB | R124L | 4 | 3 | 14 (3/11) | [10,13] |
| G623D | 14 | 1 | 7 (3/4) | [22,27] | |
| CDTB | R555Q | 12 | 1 | 14 (6/8) | [17,19] |
| R124C | 4 | 2 | 18 (9/9) | [26] | |
| Total | 19 | 64 | 355 |