Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients
Purpose: To assess the frequency of mutations in the Myocilin (MYOC) gene in Iranian patients affected with primary congenital glaucoma (PCG). Methods: The individuals evaluated herein are among a larger cohort of 100 patients who had previously been screened for CYP1B1 mutations. Eighty subjects c...
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| Format: | Article |
| Language: | English |
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Knowledge E
2010-01-01
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| Series: | Journal of Ophthalmic & Vision Research |
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| Online Access: | http://www.jovr.org/article.asp?issn=2008-322X;year=2010;volume=5;issue=2;spage=101;epage=104;aulast=Elahi |
| _version_ | 1811332593464901632 |
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| author | Elahe Elahi Mehrnaz Narooie-Nejhad Fatemeh Suri Shahin Yazdani |
| author_facet | Elahe Elahi Mehrnaz Narooie-Nejhad Fatemeh Suri Shahin Yazdani |
| author_sort | Elahe Elahi |
| collection | DOAJ |
| description | Purpose: To assess the frequency of mutations in the Myocilin (MYOC) gene in Iranian patients affected with primary congenital glaucoma (PCG).
Methods: The individuals evaluated herein are among a larger cohort of 100 patients who had previously been screened for CYP1B1 mutations. Eighty subjects carried mutations in CYP1B1, but the remaining 20 patients who did not, underwent screening for MYOC mutations for the purpose of the study. MYOC exons in the DNA were polymerase chain reaction (PCR) amplified and sequenced. Sequencing was performed using PCR primers, the ABI big dye chemistry and an ABI3730XL instrument. Sequences were analyzed by comparing them to reference MYOC sequences using the Sequencher software.
Results: Four MYOC sequence variations were observed among the patients, but none of them were considered to be associated with disease status. Three of these variations were single nucleotide polymorphisms already reported not to be disease causing, the fourth variation created a synonymous codon and did not affect any amino acid change.
Conclusion: In this cohort, MYOC mutations were not observed in any Iranian subject with PCG. It is possible that in a larger sample, a few subjects carrying disease causing MYOC mutations could have been observed. But our results show that the contribution of MYOC to PCG status in Iran is small if any. |
| first_indexed | 2024-04-13T16:39:07Z |
| format | Article |
| id | doaj.art-a0904e7b038e4cf78dac4ef90414c6ee |
| institution | Directory Open Access Journal |
| issn | 2008-322X |
| language | English |
| last_indexed | 2024-04-13T16:39:07Z |
| publishDate | 2010-01-01 |
| publisher | Knowledge E |
| record_format | Article |
| series | Journal of Ophthalmic & Vision Research |
| spelling | doaj.art-a0904e7b038e4cf78dac4ef90414c6ee2022-12-22T02:39:19ZengKnowledge EJournal of Ophthalmic & Vision Research2008-322X2010-01-0152101104Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian PatientsElahe ElahiMehrnaz Narooie-NejhadFatemeh SuriShahin YazdaniPurpose: To assess the frequency of mutations in the Myocilin (MYOC) gene in Iranian patients affected with primary congenital glaucoma (PCG). Methods: The individuals evaluated herein are among a larger cohort of 100 patients who had previously been screened for CYP1B1 mutations. Eighty subjects carried mutations in CYP1B1, but the remaining 20 patients who did not, underwent screening for MYOC mutations for the purpose of the study. MYOC exons in the DNA were polymerase chain reaction (PCR) amplified and sequenced. Sequencing was performed using PCR primers, the ABI big dye chemistry and an ABI3730XL instrument. Sequences were analyzed by comparing them to reference MYOC sequences using the Sequencher software. Results: Four MYOC sequence variations were observed among the patients, but none of them were considered to be associated with disease status. Three of these variations were single nucleotide polymorphisms already reported not to be disease causing, the fourth variation created a synonymous codon and did not affect any amino acid change. Conclusion: In this cohort, MYOC mutations were not observed in any Iranian subject with PCG. It is possible that in a larger sample, a few subjects carrying disease causing MYOC mutations could have been observed. But our results show that the contribution of MYOC to PCG status in Iran is small if any.http://www.jovr.org/article.asp?issn=2008-322X;year=2010;volume=5;issue=2;spage=101;epage=104;aulast=ElahiPrimary Congenital Glaucoma; Myocilin |
| spellingShingle | Elahe Elahi Mehrnaz Narooie-Nejhad Fatemeh Suri Shahin Yazdani Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients Journal of Ophthalmic & Vision Research Primary Congenital Glaucoma; Myocilin |
| title | Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients |
| title_full | Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients |
| title_fullStr | Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients |
| title_full_unstemmed | Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients |
| title_short | Myocilin Mutations Are Not a Major Cause of Primary Congenital Glaucoma in Iranian Patients |
| title_sort | myocilin mutations are not a major cause of primary congenital glaucoma in iranian patients |
| topic | Primary Congenital Glaucoma; Myocilin |
| url | http://www.jovr.org/article.asp?issn=2008-322X;year=2010;volume=5;issue=2;spage=101;epage=104;aulast=Elahi |
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