Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil

Sena, Dayse F

doi:10.1136/jmg.2003.010777

Cited by 48 publications

(32 citation statements)

References 20 publications

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“…Two mutated alleles, g.8037_8046dupTCATGCCACC and g.4611_4619del-GCAACTTCA (S269_F271del), have been proposed to be ancient on the basis of haplotype analysis and, therefore, are expected to be spread widely; however, only the first was found among the Iranian patients. 41 The second mutation represents deletion of one copy of a 9-bp repeat in the wild-type nucleotide sequence. A further duplication of the repeat was identified as a novel mutation (N265_R266insSNL) among the Iranian patients, suggesting that this may be a mutational hotspot.…”

Section: Discussionmentioning

confidence: 99%

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

Chitsazian

Tusi

Elahi

et al. 2007

The Journal of Molecular Diagnostics

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The mutation spectrum of CYP1B1 among 104 primary congenital glaucoma patients of the genetically heterogeneous Iranian population was investigated by sequencing. We also determined intragenic single nucleotide polymorphism (SNP) haplotypes associated with the mutations and compared these with haplotypes of other populations. Finally, the frequency distribution of the haplotypes was compared among primary congenital glaucoma patients with and without CYP1B1 mutations and normal controls. Genotype classification of six high-frequency SNPs was performed using the PHASE 2.0 software. CYP1B1 mutations in the Iranian patients were very heterogeneous. Nineteen nonconservative mutations associated with disease, and 10 variations not associated with disease were identified. Ten mutations and three variations not associated with disease were novel. The 13 novel variations make a notable contribution to the ϳ70 known variations in the gene. CYP1B1 mutations were identified in 70% of the patients. The four most common mutations were G61E, R368H, R390H, and R469W, which together constituted 76.2% of the CYP1B1 mutated alleles found. Six unique core SNP haplotypes were identified, four of which were common to the patients with and without CYP1B1 mutations and controls studied.

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Section: Discussionmentioning

confidence: 99%

“…41,42 An exception is the E229K mutation, which was reported to be a possible dominant cause of PCG and early-onset primary open angle glaucoma in French patients. 22,29 However, of the two Iranian patients who carried this mutation, one was homozygous and the other also carried a second mutation.…”

Section: Discussionmentioning

confidence: 99%

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

Chitsazian

Tusi

Elahi

et al. 2007

The Journal of Molecular Diagnostics

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“…The E173K, among the more rare mutations in the Iranians, is only recently reported as a new mutation in an Egyptian family (17), and g.4673_4674insC was formerly reported in a Turkish family (18). In contrast, most of the mutations of cases from the American continents and Western Europe are not detected among the Iranians (10). The E229K mutation is described as a potential main cause of PCG and early -onset primary open angle glaucoma in French patients (19).…”

Section: Discussionmentioning

confidence: 96%

“…The four most prevalent mutations detected among the Iranians are p.G61E, p.R390H, p.R469W, and p.R368H. They constitute 51% of the Iranian CYP1B1 alleles studied and 76.2% of the mutated CYP1B1 alleles observed (10). PCG occurs both in sporadic and familial patterns.…”

Section: Introductionmentioning

confidence: 99%

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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“…Approximately 20% of patients ascertained with earlyonset glaucoma through tertiary care facilities will have mutations in one of the genes known to cause early-onset glaucoma (Fig. 2) (Sena et al 2004;Lim et al 2013). Of these, mutations in FOXC1 are most common followed by MYOC, CYP1B1, PAX6, and PITX2.…”

Section: Early-onset Glaucoma Genetic Testingmentioning

confidence: 99%

Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications

Allen

Gaier

Wiggs

2015

Cold Spring Harb Perspect Med

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Founder mutations of CYP1B1 gene in patients with congenital glaucoma from the United States and Brazil

Cited by 48 publications

References 20 publications

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

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

The Role of Genetic Counseling in Prevention of Primary Congenital Glaucoma

Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications

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