Document Detail


Molecular basis of Peters anomaly in Saudi Arabia.
MedLine Citation:
PMID:  15621878     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Peters anomaly (PA) and primary congenital glaucoma (PCG) are genetically and phenotypically distinct conditions. Mutations in cytochrome P4501B1 (CYP1B1) are the most common cause of PCG in Saudi Arabia. Recent evidence suggests that there may be common genetic factors to these conditions. To determine the molecular basis of PA, 11 study subjects with PA from 10 Saudi Arabian families were recruited. Experienced ophthalmologists examined all affected subjects and most of their available unaffected relatives. The diagnosis of PA was confirmed by pathological examination of excised corneal buttons in seven subjects. The coding exons of FOXC1, PITX2, and PAX6 were screened and those of CYP1B1 and FOXE3 sequenced. Homozygous CYP1B1 mutations were identified in six individuals in five families. Five individuals were homozygous for G61E and one was homozygous for 143del10. No mutations were identified in FOXC1, PITX2, PAX6, or FOXE3. The clinical or pathologic phenotype of the subjects with CYP1B1 mutations was not different from that of the other PA patients in this study. Two families included at least one individual with homozygous CYP1B1 mutations and no ocular anomalies (nonpenetrant). Mutations in CYP1B1 may be a substantive cause for PA in this population. Thus, PA and PCG may share a common molecular pathophysiology. Indeed, PA and PCG may share the same spectrum of anterior segment dysgenesis. Finally, the occurrence of PA, PCG, and unaffected individuals with identical homozygous CYP1B1 mutations in the same sibship suggests the presence of modifiers that modulate the clinical severity of the phenotypic expression of the same CYP1B1 mutation(s).
Authors:
Deepak Edward; Ali Al Rajhi; Richard Alan Lewis; Stacey Curry; Zongren Wang; Bassem Bejjani
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Ophthalmic genetics     Volume:  25     ISSN:  1381-6810     ISO Abbreviation:  Ophthalmic Genet.     Publication Date:  2004 Dec 
Date Detail:
Created Date:  2004-12-28     Completed Date:  2005-03-17     Revised Date:  2014-01-08    
Medline Journal Info:
Nlm Unique ID:  9436057     Medline TA:  Ophthalmic Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  257-70     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Aryl Hydrocarbon Hydroxylases / genetics*
Biological Markers
Corneal Opacity / genetics,  pathology
DNA-Binding Proteins / genetics
Eye Proteins
Female
Forkhead Transcription Factors
Glaucoma / congenital,  genetics*
Homeodomain Proteins / genetics
Homozygote
Humans
Infant
Infant, Newborn
Male
Mutation / genetics*
Paired Box Transcription Factors
Pedigree
Repressor Proteins
Saudi Arabia
Transcription Factors / genetics
Grant Support
ID/Acronym/Agency:
5 R01 EY11780/EY/NEI NIH HHS; EY01792/EY/NEI NIH HHS
Chemical
Reg. No./Substance:
0/Biological Markers; 0/DNA-Binding Proteins; 0/Eye Proteins; 0/FOXC1 protein, human; 0/FOXE3 protein, human; 0/Forkhead Transcription Factors; 0/Homeodomain Proteins; 0/PAX6 protein; 0/Paired Box Transcription Factors; 0/Repressor Proteins; 0/Transcription Factors; 184787-43-7/homeobox protein PITX2; 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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