Table 3. Mutations in MYOC identified in Chinese families or patients.
| Mutation | Location | Case control | Family-base | Phenotype | Proband age at diagnosis | Country/ethnicity | Reference |
|---|---|---|---|---|---|---|---|
| R91X |
Exon1 |
Yes |
|
NA |
|
China |
[19] |
| C245Y |
Exon3 |
Yes |
Yes |
JOAG |
16 |
China |
[22,23] |
| G252R |
Exon3 |
Yes |
Yes |
JOAG |
29 |
Caucasian, China |
[12,20] |
| E300K |
Exon3 |
Yes |
|
NA |
NA |
China |
[19,22] |
| S313F |
Exon3 |
Yes |
|
NA |
NA |
China |
[22] |
| Q337X |
Exon3 |
|
Yes |
JOAG |
40** |
China |
[28] |
| S341P |
Exon3 |
|
Yes |
JOAG |
24 |
China, Korean |
[14,26] |
| T353I* |
Exon3 |
Yes |
|
NA |
NA |
Asian |
[19,22] |
| P370L |
Exon3 |
Yes |
Yes |
JOAG |
11 |
Caucasian, Asian |
[12,27,32,33] |
| N450Y |
Exon3 |
|
Yes |
JOAG |
20 |
China |
Present study |
| T455K |
Exon3 |
|
Yes |
JOAG |
26 |
China |
[25] |
| Y471C | Exon3 | Yes | NA | NA | China | [19,22] |
The asterisk indicates uncertain pathogenicity and the double asterisk indicates the proband was in the end stage of glaucoma. NA refers date is unavailable.