SUMMARY
Purpose:
To evaluate the frequency and type of mutation in the trabecular meshwork-induced glucocorticoid response protein (MYOC/TIGR) gene among Brazilian patients with juvenile open angle glaucoma (JOAG) and primary open angle glaucoma (POAG).
Methods:
The genomic DNA of consecutive patients with POAG and JO AG was extracted from peripheral blood. Subsequently, PCR and SSCP were performed to identify possible mutations in the MYOC/TIGR gene, which were confirmed by sequencing analysis.
Results:
Nineteen patients with JOAG were studied. Eight patients (42%) showed a single mutation in exon 3 at amino acid 433, which codifies an arginine (CGT) instead of a cysteine (TGT). Among patients with POAG (n = 52), we found two (3.8%) with a mutation in the MYOC/TIGR gene. One of them showed a point mutation at amino acid 368, codifying a stop codon instead of a glutamine. The other patient had the same mutation as those observed in JOAG patients.
Conclusion:
A new mutation in the MYOC/TIGR gene in Brazilian patients with JOAG and POAG was reported. The ocurrence of mutations in the MYOC/TIGR gene in 42% of Brazilian patients with JOAG as well as in 3.8% of those with POAG could be even higher, since the full gene was not evaluated (only 400 bp of exon 3).
Keywords:
Juvenile glaucoma; Primary open angle glaucoma; MYOC gene; TIGR gene