Genetic analysis of patients with primary congenital glaucoma

Ava, Sedat; Demirtaş, Atılım Armağan; Karahan, Mine; Erdem, Seyfettin; Oral, Derviş; Keklíkçí, Uğur

doi:10.1007/s10792-021-01815-z

Cited by 8 publications

(6 citation statements)

References 32 publications

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“…15 Studies conducted in Türkiye report that the rate of c.182G > A (p.G61E) mutations is 23%. 22 It was found to be 11.53% in our study. At the same time, unlike other studies, the c.1405 C > T (p.R469W) mutation occurred in 19.23% of cases.…”

Section: Discussionsupporting

confidence: 45%

CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye

Akbas,

Erdem,

Bozdogan

et al. 2023

J Pediatr Genet

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The aim of this study was to investigate the CYP1B1 and MYOC genes in patients with primary congenital glaucoma (PCG) from the Cukurova region (located in the south of Türkiye) and reveal the relationship between gene mutations and clinical severity of the disease. Molecular genetic and clinical study was conducted in 42 eyes of 26 patients who were followed for a diagnosis of PCG. The clinical diagnosis was concluded by ophthalmological examination under general anesthesia or slit-lamp biomicroscopy, gonioscopy, and measurement of the intraocular pressure. A CYP1B1 gene mutation was detected in 12 patients (46.2%). Two of these patients had a combination of CYP1B1 and MYOC mutations. The most common pathogenic variant, c.1405C > T (p.R469W) (n = 5), was present in patients with mutations, and the prognosis was poor compared with other modifications (p = 0.014). The second most common variant was c.3987G > A (p.G61E) (n = 3), which was associated with a good prognosis. The incidence of buphthalmos and the mean horizontal corneal diameter were higher in patients with mutations in the CYP1B1 and MYOC genes. All parents were found to be carriers of the mutation gene. This is the report on molecular genetic analysis of PCG in the southern region of Türkiye. Some specific genetic variants may have an effect on the prognosis of the disease. However, patients without mutations in these case groups may have mutations in genes yet to be identified.

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Section: Discussionsupporting

confidence: 45%

CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye

Akbas,

Erdem,

Bozdogan

et al. 2023

J Pediatr Genet

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“…It was also the predominant mutation in PCG in previous registry studies [ 26 , 49 ]. A higher frequency of CYP1B1 mutations was seen in cohorts from Turkey [ 49 ], Saudi Arabia (75%) [ 27 ], Morocco (48%) [ 28 ], India (44%), and Brazil (44%) [ 31 ], whereas the frequency was lower in Chinese (17%) [ 30 ] and Australian/New Zealand patients (16%) [ 26 ]. The different frequency rates may be caused by different rates of consanguinity—the Saudi cohort reported consanguinity of 69%, which is almost five times as high as seen in our study.…”

Section: Discussionmentioning

confidence: 87%

“…The most common mutation was CYP1B1 (cytochrome P450 family 1 subfamily B member 1), which accounted for 30% of PCG cases. It was also the predominant mutation in PCG in previous registry studies [26,49]. A higher frequency of CYP1B1 mutations was seen in cohorts from Turkey [49], Saudi Arabia (75%) [27], Morocco (48%) [28], India (44%), and Brazil (44%) [31], whereas the frequency was lower in Chinese (17%) [30] and Australian/New Zealand patients (16%) [26].…”

Section: Discussionmentioning

confidence: 90%

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First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

Stingl

Diederich

Diel

et al. 2021

JCM

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Childhood glaucoma is a heterogeneous disease and can be associated with various genetic alterations. The aim of this study was to report first results of the phenotype–genotype relationship in a German childhood glaucoma cohort. Forty-nine eyes of 29 children diagnosed with childhood glaucoma were prospectively included in the registry. Besides medical history, non-genetic risk factor anamnesis and examination results, genetic examination report was obtained (23 cases). DNA from peripheral blood or buccal swab was used for molecular genetic analysis using a specific glaucoma gene panel. Primary endpoint was the distribution of causative genetic mutations and associated disorders. Median age was 1.8 (IQR 0.6; 3.8) years, 64% participants were female. Secondary childhood glaucoma (55%) was more common than primary childhood glaucoma (41%). In 14%, parental consanguinity was indicated. A mutation was found in all these cases, which makes consanguinity an important risk factor for genetic causes in childhood glaucoma. CYP1B1 (30%) and TEK (10%) mutations were found in primary childhood glaucoma patients. In secondary childhood glaucoma cases, alterations in CYP1B1 (25%), SOX11 (13%), FOXC1 (13%), GJA8 (13%) and LTBP2 (13%) were detected. Congenital cataract was associated with variants in FYCO1 and CRYBB3 (25% each), and one case of primary megalocornea with a CHRDL1 aberration. Novel variants of causative genetic mutations were found. Distribution of childhood glaucoma types and causative genes was comparable to previous investigated cohorts. This is the first prospective study using standardized forms to determine phenotypes and non-genetic factors in childhood glaucoma with the aim to evaluate their association with genotypes in childhood glaucoma.

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“…Of analytical studies investigating the prevalence of genetic changes associated with childhood glaucoma, CYP1B1 variants are the most common with varying prevalence across regions and populations. For example, among patients with PCG, cross-sectional studies have found the prevalence of CYP1B1 variants to range between 5% and 23% in South Africa [ 71 ], China [ 46 , 62 ], America [ 68 ], Vietnam [ 54 ], Japan [ 69 , 94 , 104 , 107 ], and Germany [ 24 ], while prevalences range from 30% to 55% in studies from India [ 79 , 95 ], Turkey [ 72 , 98 ], Portugal [ 57 , 128 ], Morocco [ 40 ], Spain [ 118 ], and France [ 103 ]. Among PCG patients, CYP1B1 variants appear to be most prevalent in some South Asian and Middle Eastern populations as prevalences have been found to range from 64% to 85.7% in studies from Pakistan [ 99 ], Iran [ 63 ], and Saudi Arabia [ 47 , 113 , 123 ].…”

Section: Discussion/summary Of Evidencementioning

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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Genetic analysis of patients with primary congenital glaucoma

Cited by 8 publications

References 32 publications

CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye

CYP1B1 and MYOC Gene Analysis of Patients with Primary Congenital Glaucoma in the Cukurova Region of Türkiye

First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype–Genotype Association

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

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