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Molecular basis of Peters anomaly in Saudi Arabia.
Ophthalmic Genet. 2004 Dec; 25(4):257-70.OG

Abstract

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+Show Affiliations

Department of Ophthalmology and Visual Sciences and Pathology, University of Illinois College of Medicine, Chicago, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15621878

Citation

Edward, Deepak, et al. "Molecular Basis of Peters Anomaly in Saudi Arabia." Ophthalmic Genetics, vol. 25, no. 4, 2004, pp. 257-70.
Edward D, Al Rajhi A, Lewis RA, et al. Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genet. 2004;25(4):257-70.
Edward, D., Al Rajhi, A., Lewis, R. A., Curry, S., Wang, Z., & Bejjani, B. (2004). Molecular basis of Peters anomaly in Saudi Arabia. Ophthalmic Genetics, 25(4), 257-70.
Edward D, et al. Molecular Basis of Peters Anomaly in Saudi Arabia. Ophthalmic Genet. 2004;25(4):257-70. PubMed PMID: 15621878.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular basis of Peters anomaly in Saudi Arabia. AU - Edward,Deepak, AU - Al Rajhi,Ali, AU - Lewis,Richard Alan, AU - Curry,Stacey, AU - Wang,Zongren, AU - Bejjani,Bassem, PY - 2004/12/29/pubmed PY - 2005/3/18/medline PY - 2004/12/29/entrez SP - 257 EP - 70 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 25 IS - 4 N2 - 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). SN - 1381-6810 UR - https://www.unboundmedicine.com/medline/citation/15621878/Molecular_basis_of_Peters_anomaly_in_Saudi_Arabia_ L2 - https://www.tandfonline.com/doi/full/10.1080/13816810490902648 DB - PRIME DP - Unbound Medicine ER -