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A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
J Glaucoma. 2007 Jan; 16(1):104-11.JG

Abstract

PURPOSE

To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).

PATIENTS AND METHODS

A clinical and molecular genetic study was performed on 11 Egyptian and Saudi Arabian patients with PCG. Clinical diagnosis was confirmed by slit lamp biomicroscopy, gonioscopy, measurement of intraocular pressure, and corneal diameter. The coding regions of CYP1B1 and MYOC genes were amplified by polymerase chain reaction for all affected subjects. Direct sequence analysis was performed to search for sequence alterations. Haplotype analysis and genotype/phenotype correlation were carried out.

RESULTS

Three CYP1B1 mutations were identified in 5 PCG patients (45.4%) of which 2 were novel (homozygous E173K and heterozygous N498D) and the third (G61E) had previously been reported. In addition 10 single nucleotide polymorphisms were identified in CYP1B1 and MYOC genes of which 2 were novel. However, no pathologic changes in either of the genes were detected in the remaining 6 patients.

CONCLUSIONS

This is the first report of molecular genetic analysis of PCG in the Egyptian population in which 2 novel mutations have been identified. It is possible that these mutations are specific to this population and may lead to alterations in the protein structure encoded by the gene. Patients with no mutations in the screened genes may have mutations in genes yet to be identified.

Authors+Show Affiliations

Department of Molecular Genetics, Institute of Ophthalmology, London EC1V 9EL, UK. elashrymohamed@yahoo.co.ukNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17224759

Citation

El-Ashry, Mohamed F., et al. "A Clinical and Molecular Genetic Study of Egyptian and Saudi Arabian Patients With Primary Congenital Glaucoma (PCG)." Journal of Glaucoma, vol. 16, no. 1, 2007, pp. 104-11.
El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS. A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). J Glaucoma. 2007;16(1):104-11.
El-Ashry, M. F., Abd El-Aziz, M. M., & Bhattacharya, S. S. (2007). A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). Journal of Glaucoma, 16(1), 104-11.
El-Ashry MF, Abd El-Aziz MM, Bhattacharya SS. A Clinical and Molecular Genetic Study of Egyptian and Saudi Arabian Patients With Primary Congenital Glaucoma (PCG). J Glaucoma. 2007;16(1):104-11. PubMed PMID: 17224759.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). AU - El-Ashry,Mohamed F, AU - Abd El-Aziz,Mai M, AU - Bhattacharya,Shomi S, PY - 2007/1/17/pubmed PY - 2007/3/6/medline PY - 2007/1/17/entrez SP - 104 EP - 11 JF - Journal of glaucoma JO - J Glaucoma VL - 16 IS - 1 N2 - PURPOSE: To undertake mutation screening of cytochrome P4501B1 (CYP1B1, OMIM 601771) and myocilin (MYOC, OMIM 601652) genes in Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG). PATIENTS AND METHODS: A clinical and molecular genetic study was performed on 11 Egyptian and Saudi Arabian patients with PCG. Clinical diagnosis was confirmed by slit lamp biomicroscopy, gonioscopy, measurement of intraocular pressure, and corneal diameter. The coding regions of CYP1B1 and MYOC genes were amplified by polymerase chain reaction for all affected subjects. Direct sequence analysis was performed to search for sequence alterations. Haplotype analysis and genotype/phenotype correlation were carried out. RESULTS: Three CYP1B1 mutations were identified in 5 PCG patients (45.4%) of which 2 were novel (homozygous E173K and heterozygous N498D) and the third (G61E) had previously been reported. In addition 10 single nucleotide polymorphisms were identified in CYP1B1 and MYOC genes of which 2 were novel. However, no pathologic changes in either of the genes were detected in the remaining 6 patients. CONCLUSIONS: This is the first report of molecular genetic analysis of PCG in the Egyptian population in which 2 novel mutations have been identified. It is possible that these mutations are specific to this population and may lead to alterations in the protein structure encoded by the gene. Patients with no mutations in the screened genes may have mutations in genes yet to be identified. SN - 1057-0829 UR - https://www.unboundmedicine.com/medline/citation/17224759/A_clinical_and_molecular_genetic_study_of_Egyptian_and_Saudi_Arabian_patients_with_primary_congenital_glaucoma__PCG__ L2 - https://doi.org/10.1097/01.ijg.0000212288.00917.e1 DB - PRIME DP - Unbound Medicine ER -