Document Detail


A clinical and molecular genetic study of Egyptian and Saudi Arabian patients with primary congenital glaucoma (PCG).
MedLine Citation:
PMID:  17224759     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Mohamed F El-Ashry; Mai M Abd El-Aziz; Shomi S Bhattacharya
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of glaucoma     Volume:  16     ISSN:  1057-0829     ISO Abbreviation:  J. Glaucoma     Publication Date:  2007 Jan 
Date Detail:
Created Date:  2007-01-16     Completed Date:  2007-03-05     Revised Date:  2014-01-08    
Medline Journal Info:
Nlm Unique ID:  9300903     Medline TA:  J Glaucoma     Country:  United States    
Other Details:
Languages:  eng     Pagination:  104-11     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Age of Onset
Amino Acid Sequence
Aryl Hydrocarbon Hydroxylases
Child
Child, Preschool
Consanguinity
Cytochrome P-450 Enzyme System / genetics*
Cytoskeletal Proteins / genetics*
DNA Mutational Analysis
Egypt / epidemiology
Eye Proteins / genetics*
Female
Glaucoma / congenital,  ethnology,  genetics*
Glycoproteins / genetics*
Gonioscopy
Haplotypes
Humans
Infant
Intraocular Pressure
Male
Molecular Biology
Molecular Sequence Data
Mutation*
Pedigree
Polymerase Chain Reaction
Saudi Arabia / epidemiology
Chemical
Reg. No./Substance:
0/Cytoskeletal Proteins; 0/Eye Proteins; 0/Glycoproteins; 0/trabecular meshwork-induced glucocorticoid response protein; 9035-51-2/Cytochrome P-450 Enzyme System; EC 1.14.14.1/Aryl Hydrocarbon Hydroxylases; EC 1.14.14.1/cytochrome P-450 CYP1B1

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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