Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study

Al‐Haddad, Christiane; Abdulaal, Marwan; Badra, Rebecca; Barikian, Anita; Noureddine, Bahaa; Farra, Chantal

doi:10.3109/13816810.2014.924015

Cited by 14 publications

(14 citation statements)

References 26 publications

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“…An early age at onset was also observed in CYP1B1 -associated PCG patients of South Korean and Lebanese origin. [ 33 , 47 ] Conversely, this was not observed in the Brazilian patients who had a relatively higher age at onset and an equal distribution of cases with positive family history in the mutation and non-mutation groups. While consanguinity per se, was not associated with the CYP1B1 mutations in either of the cohorts, Indian PCG cases harboring mutations (p<0.0001) and those devoid of mutations (p<0.0001) exhibited a significantly higher proportion of consanguinity compared to the Brazilians.…”

Section: Discussionmentioning

confidence: 79%

“…[ 10 , 11 , 17 ] Despite the identification of over 100 CYP1B1 mutations in PCG, thorough genotype-phenotype correlation studies are very scant in the literature. [ 42 – 47 ] Majority of the studies were limited in number of PCG cases as a whole and those harboring mutations, which often precluded from undertaking this efforts. [ 35 , 43 , 44 , 47 ] In order to address this lacunae, a comprehensive study was planned on a large sample (n = 901), comprising 451 PCG cases and 450 controls representing cohorts from India and Brazil.…”

Section: Discussionmentioning

confidence: 99%

“…[ 42 – 47 ] Majority of the studies were limited in number of PCG cases as a whole and those harboring mutations, which often precluded from undertaking this efforts. [ 35 , 43 , 44 , 47 ] In order to address this lacunae, a comprehensive study was planned on a large sample (n = 901), comprising 451 PCG cases and 450 controls representing cohorts from India and Brazil. These two ethnically diverse and geographically distant populations represented a diverse mutation spectrum in CYP1B1 along with variable clinical manifestation that helped in undertaking genotype-phenotype correlation.…”

Section: Discussionmentioning

confidence: 99%

“…Nevertheless, there are some studies that did attempt to associate the effect of certain mutant genotypes on the phenotypes. [ 39 , 42 – 47 ] However, a concerted effort to unravel the overall picture of genotype-phenotype correlations pertaining to CYP1B1 mutations that would help in understanding the clinical course of the disease for a better prognosis, is still elusive.…”

Section: Introductionmentioning

confidence: 99%

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Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

et al. 2015

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BackgroundPrimary congenital glaucoma (PCG), occurs due to the developmental defects in the trabecular meshwork and anterior chamber angle in children. PCG exhibits genetic heterogeneity and the CYP1B1 gene has been widely implicated worldwide. Despite the diverse mutation spectra, the clinical implications of these mutations are yet unclear. The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300).MethodsGenotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters. The demographic (gender, and history of consanguinity) and quantitative clinical (presenting intraocular pressure [IOP] and corneal diameter [CD]) parameters were considered as binary and continuous variables, respectively, for PCG patients in the background of the overall mutation spectra and also with respect to the prevalent mutations in India (R368H) and Brazil (4340delG). All these variables were fitted in a multivariate logistic regression model using the Akaike Information Criterion (AIC) to estimate the adjusted odds ratio (OR) using the R software (version 2.14.1).ResultsThe overall mutation spectrum were similar across the Indian and Brazilian PCG cases, despite significantly higher number of homozygous mutations in the former (p=0.024) and compound heterozygous mutations in the later (p=0.012). A wide allelic heterogeneity was observed and only 6 mutations were infrequently shared between these two populations. The adjusted ORs for the binary (demographic) and continuous (clinical) variables did not indicate any susceptibility to the observed mutations (p>0.05).ConclusionsThe present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. However, the susceptibility of these mutations to the long-term progression of these traits are yet to be deciphered.

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Section: Discussionmentioning

confidence: 79%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

et al. 2015

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“…According to the study conducted by Li et al, the three most common mutations in Asian patients were p.Val364Met, p. Arg390His, and p.Leu385Phe. 9 In this meta-analysis, both p.Val364Met and p.Arg390His mutations were identified in South Korea, but also in Morocco and in some Middle East countries (Saudi Arabia, and Pakistan).…”

Section: Asiamentioning

confidence: 84%

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Chouiter

Nadifi

2017

J Pediatr Genet

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Primary congenital glaucoma (PCG) is the most common type of infantile glaucoma, yet it remains a relatively rare disease, because the disease is often transmitted in an autosomal recessive pattern. However, PCG occurs up to 10 times more frequently in certain ethnic and geographical groups where consanguineous relationships are common. The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( ) in patients with PCG among different populations around the world from 2011 until May 2016. We referred to the electronic databases, such as Medline, Clinicalkey, Scopus, and ScienceDirect, to search for articles that were published in this area. Nineteen records were included in this qualitative synthesis. mutations were assessed in 1,220 patients with PCG and identified in 41.6% of them. According to these studies, 99 mutations including 60 novel mutations were found. Nonsignificant difference in the sex ratio has been reported. This current review shows that consanguinity plays an important role in the PCG pathogenesis and transmission; however, sporadic mutations have been found in some cases. A difference in penetrance was highlighted by some mutations. The mutations were mostly found in the Middle East and the Maghreb with a rate of 64.8 and 54.4%, respectively, followed by Europe (34.7%), Asia (21.3%), and finally the United States (14.9%). Founder mutations in different geographical areas have been discovered. For instance, the p.Gly61Glu, p.Arg390His, p.Gly61Glu, c.4,339delG, p.E387Lys, and p.Val320Leu were considered founder mutations for Iran/Saudi Arabia, Pakistan, Lebanon, Morocco, Europe, and Vietnam/South Korea, respectively. Many common mutations in different countries were found, such as in Morocco, where its mutations were similar to seven other countries. These findings suggest that the ethnic differences and the geographical distribution of PCG give us a large mutation pattern. Genetic tests looking for founder and common mutations should be the first step in genetic screening for patients with PCG.

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Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma

Gupta

Walia

Kaur

et al. 2017

Graefes Arch Clin Exp Ophthalmol

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Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study

Abstract: The rate of CYP1B1 mutations in Lebanese patients with PCG is lower than that reported in other Arab and Middle Eastern populations and suggests other genes are responsible for PCG in the remainder.

Cited by 14 publications

References 26 publications

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma

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