CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes

Chitsazian, Fereshteh; Tusi, Betsabeh Khoramian; Elahi, Elahe; Saroei, Heidar Amini; Sanati, Mohammad Hossein; Yazdani, Shahin; Pakravan, Mohammad; Nilforooshan, Navid; Eslami, Yadollah; Mehrjerdi, Mohammad Ali Zare; Zareei, R; Jabbarvand, Mahmood; Abdolahi, Ali; Lasheyee, Ali R.; Etemadi, Arash; Bayat, Behnaz; Sadeghi, Mehdi; Banoei, Mohammad Mehdi; Ghafarzadeh, Behnam; Rohani, Mohammad Reza; Rismanchian, A; Thorstenson, Yvonne R.; Sarfarazi, Mansoor

doi:10.2353/jmoldx.2007.060157

Cited by 56 publications

(48 citation statements)

References 39 publications

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“…But, it is found that patients with heterozygous CYP1B1 mutations have a better prognosis after surgery than patients with homozygous/compound heterozygous CYP1B1 mutations (13). Notable sequence heterogeneity is observed in CYP1B1 gene among the Iranian patients with PCG.…”

Section: Discussionmentioning

confidence: 95%

The Role of Genetic Counseling in Prevention of Primary Congenital Glaucoma

Kheradpajouh

Assar

2017

Jentashapir J Health Res

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Introduction: Background and objectives: Primary congenital glaucoma (PCG) (OMIM: 231300) is an inherited ocular illness, which leads to permanent blindness. Up to now, three dissimilar loci are mapped for PCG. The most common locus detected for this disease is cytochrome P450 (CYP1B1; GLC3A) mutations. Expression and penetrance of PCG varies from 40% to 100%. It seems the high incidence in the oriental communities is due to consanguineous matrimonies. PCG happens in both sporadic and familial patterns. Inheritance in familial cases is usually autosomal recessive, which sometimes manifested as incomplete penetrance. Pseudo -dominant transmission was also reported. Case Presentation: The paper reports a case of genetic counseling in Iran that the client couple had family marriage and demanded pre-pregnancy consultation, but the male was healthful and unaware of treated genetic disorder in his infancy. After history taking, the first candidate gene (CYP1B1) in the husband and his parents were amplified by polymerase chain reaction (PCR), sequenced using Sanger technique; therefore, the control subjects and patients were analyzed to identify PCG mutations. Conclusions: The husband and his mother were compound heterozygote for CYP1B1 gene mutations including two variations in 61 and 368 codons. Also his father was heterozygote for one variant. More investigations showed that the wife (husband's cousin) did not mention mutations. The local certified counselor/physician provided genetic counseling, should investigate surgery reason and its description for individuals with therapeutic or plastic surgery history. This early and reliable diagnosis of the disease is vital for the next generation, especially in family marriage cases, prenatal diagnosis is provided, also, appropriate and early medical and surgical prognoses can be performed. This causes prevention of visual loss and save vision of the child.

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Section: Discussionmentioning

confidence: 95%

The Role of Genetic Counseling in Prevention of Primary Congenital Glaucoma

Kheradpajouh

Assar

2017

Jentashapir J Health Res

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“…Reports indicate that several CYP1B1 mutations in different societies have been associated with different phenotypes of the disease (mild, moderate, and severe). In the first study conducted in Iran, CYP1B1 mutations were responsible for PCG in 70% (40) and for JOAG in 17.4% (28) of patients but were not responsible for POAG and JOAG in southeastern Iran (41). CYP1B1 mutations show incomplete penetrance in the Iranian population (32).…”

Section: Primary Congenital Glaucomamentioning

confidence: 99%

Gene-Finding Strategy in Glaucoma

Narooie‐Nejad

2018

Gene Cell Tissue

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Glaucoma is a group of complex eye disorders characterized by increased intraocular pressure, optic nerve damage, and ultimately, optic nerve cupping, ending in irreversible blindness. The age of onset and the anatomy of the anterior chamber indicate that glaucoma consists of the categories of primary open-angle glaucoma, primary congenital glaucoma, and primary angle closure glaucoma. To date, many loci have shown to be associated with different types of glaucoma; however, the underlying cause of the disease remains ambiguous. Two main approaches exist to find new loci and genes associated with the disease: linkage analysis, which is applicable for large pedigrees with multiple affected and healthy individuals, and a genome-wide association study for large cohorts of sporadic cases. Careful patient selection is the first step in these kinds of genetic research. All subjects selected should be examined to identify the known gene mutations for the specific type of glaucoma. Subjects with no mutations in known genes are possible subjects of a genome-wide association study or linkage analysis.

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“…An Iranian PCG patient was identified who harbored the p.Gly61Glu (c.182G>A) mutation in CYP1B1 [8]. He was born to consanguineous parents, had two PCG-affected siblings, and his father was diagnosed with POAG (online suppl.…”

Section: Methodsmentioning

confidence: 99%

“…Presently, two causative genes for PCG are known, CYP1B1 and LTBP2 , which encode, respectively, cytochrome P450 family 1 subfamily B polypeptide 1 and latent transforming growth factor-β binding protein 2 [6,7]. Whereas the four known POAG genes are together estimated to account for the disease status in less than 10% of POAG patients, mutations in CYP1B1 account for PCG in a large fraction of patients [5,8]. They are estimated to be the cause of disease in 70% of Iranian PCG patients [8].…”

Section: Introductionmentioning

confidence: 99%

“…Whereas the four known POAG genes are together estimated to account for the disease status in less than 10% of POAG patients, mutations in CYP1B1 account for PCG in a large fraction of patients [5,8]. They are estimated to be the cause of disease in 70% of Iranian PCG patients [8]. Additionally, mutations in CYP1B1 have sometimes been found to be the cause of POAG, particularly in juvenile-onset patients [9].…”

Section: Introductionmentioning

confidence: 99%

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The p.Gly61Glu Mutation in <b><i>CYP1B1</i></b> Affects the Extracellular Matrix in Glaucoma Patients

Safari¹,

Suri²,

Haji‐Seyed‐Javadi³

et al. 2016

Ophthalmic Res

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Purpose: The aim of this work was to assess the possible effects of CYP1B1 mutations on the extracellular matrix (ECM) in glaucoma patients. CYP1B1 mutations are the cause of disease in a notable fraction of primary congenital glaucoma (PCG) patients and in a smaller fraction of primary open angle glaucoma (POAG) patients. Methods: The study was performed on a glaucoma family with the common homozygous p.Gly61Glu CYP1B1 mutation. The father was affected with POAG and three siblings had PCG. Microscopy was performed on the skin of the father and one son, as well as controls. Immunohistochemical studies were done using anti-CYP1B1 and anti-fibrillin-1 antibodies. Fibrillin-1 served as a marker for the ECM, and electron microscopy was also performed. Results: CYP1B1 expression patterns were the same in the patients and controls. However, microfibrils that are associated with fibrillin-1 were less abundant and more fragmented in both patients. Electron microscopy showed disturbed collagen fibers only in the PCG patient. Conclusions: The p.Gly61Glu mutation in CYP1B1 affects the ECM structure. This implies that the ECM of the trabecular meshwork may also be disrupted in a manner that affects aqueous humor flow resulting in increased intraocular pressure and contributing to the glaucoma phenotype.

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CYP1B1 Mutation Profile of Iranian Primary Congenital Glaucoma Patients and Associated Haplotypes

Cited by 56 publications

References 39 publications

The Role of Genetic Counseling in Prevention of Primary Congenital Glaucoma

The Role of Genetic Counseling in Prevention of Primary Congenital Glaucoma

Gene-Finding Strategy in Glaucoma

The p.Gly61Glu Mutation in <b><i>CYP1B1</i></b> Affects the Extracellular Matrix in Glaucoma Patients

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