Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and <i>CYP1B1</i> deletion

Souzeau, Emmanuelle; Dubowsky, Andrew; Ruddle, Jonathan B; Craig, Jamie E

doi:10.1002/mgg3.774

Cited by 6 publications

(3 citation statements)

References 18 publications

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“…Its increased expression in fetal eyes as compared to adult eyes suggests its significance in the development of childhood glaucoma specifically [190]. Numerous case reports have highlighted the incidence of bilateral PCG in those with homozygous or compound heterozygous CYP1B1 variants in individuals both with and without a family history of the disease, with the most common variants being p.G61E, p.R368H, pE229K, and p.R390H [26][27][28][29][30][31][32][33][34][35][36].…”

Section: Cyp1b1mentioning

confidence: 99%

Genetic changes and testing associated with childhood glaucoma: A systematic review

Kumar,

Han,

Oatts

2024

PLoS ONE

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Many forms of childhood glaucoma have been associated with underlying genetic changes, and variants in many genes have been described. Currently, testing is variable as there are no widely accepted guidelines for testing. This systematic review aimed to summarize the literature describing genetic changes and testing practices in childhood glaucoma. This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic review and Meta-Analyses (PRISMA) 2020 guidelines and registered with Prospero (ID CRD42023400467). A comprehensive review of Pubmed, Embase, and Cochrane databases was performed from inception through March 2, 2023 using the search terms: (glaucoma) AND (pediatric OR childhood OR congenital OR child OR infant OR infantile) AND (gene OR genetic OR genotype OR locus OR genomic OR mutation OR variant OR test OR screen OR panel). Information was extracted regarding genetic variants including genotype-phenotype correlation. Risk of bias was assessed using the Newcastle-Ottawa Scale. Of 1,916 records screened, 196 studies met inclusion criteria and 53 genes were discussed. Among study populations, mean age±SD at glaucoma diagnosis was 8.94±9.54 years and 50.4% were male. The most common gene discussed was CYP1B1, evaluated in 109 (55.6%) studies. CYP1B1 variants were associated with region and population-specific prevalence ranging from 5% to 86% among those with primary congenital glaucoma. MYOC variants were discussed in 31 (15.8%) studies with prevalence up to 36% among patients with juvenile open angle glaucoma. FOXC1 variants were discussed in 25 (12.8%) studies, which demonstrated phenotypic severity dependent on degree of gene expression and type of mutation. Overall risk of bias was low; the most common domains of bias were selection and comparability. Numerous genes and genetic changes have been associated with childhood glaucoma. Understanding the most common genes as well as potential genotype-phenotype correlation has the potential to improve diagnostic and prognostic outcomes for children with glaucoma.

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Section: Cyp1b1mentioning

confidence: 99%

Genetic changes and testing associated with childhood glaucoma: A systematic review

Kumar,

Han,

Oatts

2024

PLoS ONE

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“…Это отражает современный генетический ландшафт ПВГ, вызванной мутациями генов, наследуемых по аутосомно-рецессивному типу (например, CYP1B1) или аутосомно-доминантному типу с неполной пенетрантностью (например, TEK). В доступной нам литературе имеется редкое описание пациента с ПВГ с гомозиготной делецией гена CYP1B1, отец которого был гетерозиготным по делеции CYP1B1 и имел однородительскую изодисомию всей хромосомы 2 [36]. Также сообщается о двух семьях из Австралии с гетерозиготными мутациями с потерей функции гена TEK [37].…”

Section: австралия и новая зеландияunclassified

Genetic Epidemiology of Primary Congenital Glaucoma in the World. Part I

Oganezova,

Kadyshev,

Egorov

2023

Oftalʹmologiâ

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To understand the current situation with the genetic epidemiology of primary congenital glaucoma (PCG) in the world, as well as to identify genotype-phenotype correlations, 87 publications were analyzed from the Pubmed and elibrary databases, mainly the latest 5 years. This publication presents the first part of the analysis, covering Arab and African countries, Turkey, the USA, Brazil, Australia and New Zealand. The second part of the review, which will be published in early 2024, will focus on data from East and South Asia, Western Europe and Russia. The highest incidence of PCG is typical for Arab countries, which is associated with the presence of a significant number of consanguineous marriages in these countries. In most countries, boys predominated among patients with PCG, and the process was often bilateral. In Australia female patients predominate. The PCG phenotype is more severe in patients with CYP1B1 mutations (early onset, bilateral involvement) than in patients without mutations, and in patients with consanguineous parents than in children from unrelated marriages. Among the genetic causes of PCG in different populations, the most common (from 30 to 86 % of cases) in Arab countries, Brazil and Turkey are mutations in the CYP1B1 gene. The spectrum of mutations varies depending on the region. In Australia and New Zealand, biallelic mutations were identified in the CYP1B1, CPAMD8 and COL18A1 genes, as well as heterozygous mutations in the TEK, FOXC1 and ANGPT1. Mutations in rare genes were also found in patients with PCG from Lebanon (ANGPT1 (p.K186N), Mauritania (NTF4 (c.601T>G, p.Cys201Gly) and WDR36 (c.2078A>G, p.Asn693Ser)). In the USA, the influence of the thrombospondin gene (THBS1) on the development of PCG is being studied. Based on the results of genetic and epidemiological studies, specific treatment, rehabilitation and preventive programs can be developed, which will determine the success of PCG therapy in children, preserving their visual functions.

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“…1 ) ( 55 ). The protein is a member of the B subfamily of cytochrome P450 1, which catalyzes the NADPH-dependent mono-oxygenation of xenobiotics and endogenous molecules ( 56 ). The CYP1B1 gene is expressed in various tissue types in the human body, including in the cornea, ciliary body, iris and retina, and may participate in the development of TM ( 57 ).…”

Section: Genetic Aspects and Mutations In Genes Associated With Pcmentioning

confidence: 99%

Updates on the molecular genetics of primary congenital glaucoma (Review)

Chen

Zhang

et al. 2020

Exp Ther Med

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Primary congenital glaucoma (PCG) is one of the primary causes of blindness in children and is characterized by congenital trabecular meshwork and anterior chamber angle dysplasia. While being a rare condition, PCG severely impairs the quality of life of affected patients. However, the pathogenesis of PCG remains to be fully elucidated. It has previously been indicated that genetic factors serve a critical role in the pathogenesis of PCG, although patients with PCG exhibit significant genetic heterogeneity. Mutations in the cytochrome P450 family 1 subfamily B member 1 gene have been implicated in PCG and further genes that have been reported to be involved in PCG are myocilin, forkhead box C1, collagen type I α1 chain and latent transforming growth factor β binding protein 2. The present review aims to provide an up to date understanding of the genes associated with PCG and the use of molecular technologies in the identification of such genes and mutations. This may pave the way for the development of preventative methods, early diagnosis and improved therapeutic strategies in PCG.

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Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

Cited by 6 publications

References 18 publications

Genetic changes and testing associated with childhood glaucoma: A systematic review

Genetic changes and testing associated with childhood glaucoma: A systematic review

Genetic Epidemiology of Primary Congenital Glaucoma in the World. Part I

Updates on the molecular genetics of primary congenital glaucoma (Review)

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