Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

2021 ◽  
pp. 112067212110163
Author(s):  
Amine Haddad ◽  
Oum Kaltoum Ait Boujmia ◽  
Loubna El Maaloum ◽  
Hind Dehbi
Keyword(s):  
Saudi Arabia ◽  
Meta Analysis ◽  
Gene Mutations ◽  
Severe Form ◽  
Congenital Glaucoma ◽  
Common Mutation ◽  
Primary Congenital Glaucoma ◽  
Cytochrome P450 1B1 ◽  
Significant Difference ◽  
Depth Study

Primary congenital glaucoma (PCG) is a rare and severe form of glaucoma and is usually transmitted as an autosomal-recessive disease. However, PCG is more common in certain ethnic and geographic groups where consanguineous relationships are common. The importance of this review is to inspect the mutations in the cytochrome P450 1B1 gene (CYP1B1) and to highlight the interest of the genetic study of CYP1B1 mutations. An in-depth study was carried out by the following search engines: PubMed, Scopus, clinic key and direct science for articles that have been published from 2011 until 2020. One hundred and sixty-one mutations were found in 1641 tested patients and three families, including 78 novel mutations. We identified a no significant difference in the sex ratio and the bilaterality was reported in the majority of patients. We have shown through this study that inbreeding plays an important role in the pathogenesis of PCG transmission compared to the sporadic mutations that have been found in some cases. The majority of the included studies were from ASIA (64.3%), followed by Europe (17.85%), America (10.71%) and Africa (7.14%). The first and most common mutation in our study is 182 G>A (p.Gly61Glu). It was identified in Iran, Portugal and Saudi Arabia and for the first time in Brazil and Vietnam. The greatest number of mutations in common is p.Gly61Glu. Mainly within five countries: Iran, Portugal, Saudi Arabia, Brazil and Vietnam. The first step in PCG screening should be a genetic test looking for founder and common mutation coupled with a clinical examination.

Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma

2011 ◽  
Vol 93 (5) ◽  
pp. 572-579 ◽  
Author(s):  
Ni Li ◽  
Yong Zhou ◽  
Liang Du ◽  
Maoling Wei ◽  
Xiaoming Chen
Keyword(s):  
Cytochrome P450 ◽  
Gene Mutations ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
Cytochrome P450 1B1

scholarly journals Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

2017 ◽  
Vol 06 (04) ◽  
pp. 205-214 ◽  
Author(s):  
Leila Chouiter ◽  
Sellama Nadifi
Keyword(s):  
Gene Mutations ◽  
The United States ◽  
Congenital Glaucoma ◽  
Founder Mutations ◽  
Qualitative Synthesis ◽  
Primary Congenital Glaucoma ◽  
Cytochrome P450 1B1 ◽  
Nonsignificant Difference ◽  
Mutation Pattern ◽  
Different Populations

AbstractPrimary 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 (CYP1B1) 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. CYP1B1 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 CYP1B1 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 CYP1B1 mutation pattern. Genetic tests looking for founder and common mutations should be the first step in genetic screening for patients with PCG.

Long-term functional outcomes of different subtypes of primary congenital glaucoma

2019 ◽  
pp. bjophthalmol-2019-315131 ◽  
Author(s):  
Richard Sher Chaudhary ◽  
Amisha Gupta ◽  
Ajay Sharma ◽  
Shikha Gupta ◽  
Rayees Ahmad Sofi ◽  
...  
Keyword(s):  
Visual Acuity ◽  
Congenital Glaucoma ◽  
Cumulative Probability ◽  
Primary Congenital Glaucoma ◽  
Visual Outcomes ◽  
Post Surgery ◽  
Kaplan Meier ◽  
Significant Difference

AimTo analyse long-term visual outcomes across different subtypes of primary congenital glaucoma (PCG).MethodsPatients with PCG with a minimum of 5-year follow-up post surgery were included in the study. Snellen visual acuity recordings taken at their last follow-up were analysed. We evaluated the results using Kaplan-Meier curves to predict the probability of maintaining good vision (as defined by a visual acuity of 6/18 or better) in our patients after 30-year follow-up. The results were also analysed to determine whether there were any differences in the long-term visual acuities with time between the neonatal and infantile PCG. We also analysed the reasons for poor visual outcomes.ResultsWe assessed a cohort of 140 patients with PCG (235 eyes) with an average follow-up of 127±62.8 months (range 60–400 months). Overall, the proportion of eyes with good visual acuity was 89 (37.9%), those with fair visual acuity between 6/60 and 6/18 was 41 (17.4%), and those with poor visual acuity (≤6/60) was 105 (44.7%). We found a significant difference (p=0.047) between neonatal and infantile patients with PCG whereby the neonatal cohort fared worse off in terms of visual morbidity. On Kaplan-Meier analysis, the cumulative probability of survival of a visual acuity of 6/18 or better was more among the infantile PCG in comparison to the neonatal PCG (p=0.039) eyes, and more among the bilateral than the unilateral affected eyes (p=0.029). Amblyopia was the most important cause for poor visual acuity as shown on a Cox proportional-hazards regression model .ConclusionsLong-term visual outcomes of infantile are better than neonatal PCG. Eyes with unilateral have worse visual outcomes compared with those with bilateral PCG because of the development of dense amblyopia.

scholarly journals CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia

2014 ◽  
Vol 15 (1) ◽  
Author(s):  
Osama M Badeeb ◽  
Shazia Micheal ◽  
Robert K Koenekoop ◽  
Anneke I den Hollander ◽  
Manal T Hedrawi
Keyword(s):  
Saudi Arabia ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma

scholarly journals A Mitomycin C-Sparing Novel Technique for Subscleral Trabeculectomy in Primary Congenital Glaucoma

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Ashraf Bor’i ◽  
Salah M. Al-Mosallamy ◽  
Tamer G. Elsayed ◽  
Wael M. El-Haig
Keyword(s):  
Intraocular Pressure ◽  
Mitomycin C ◽  
Congenital Glaucoma ◽  
Surgical Interventions ◽  
Primary Congenital Glaucoma ◽  
Group I ◽  
Significant Difference ◽  
The Mean ◽  
Group Ii ◽  
Contralateral Eye

Purpose. To evaluate the safety and efficacy of a novel modified subscleral trabeculectomy technique in management of primary congenital glaucoma. Methods. This study included 25 infants diagnosed of having bilateral primary congenital glaucoma. For each patient, one eye was assigned to undergo subscleral trabeculectomy with trimming of the edges of the scleral bed (group I), while the contralateral eye underwent subscleral trabeculectomy with application of mitomycin C (0.4 mg/ml for 3 min) (group II). All the patients were followed up for a period of 14 ± 3 months (range 13–22 months). Results. 25 eyes were included in each group. Patients’ mean age was 2.5 ± 0.5 months (range 1.8–6.5 months). The mean preoperative intraocular pressure was 31 ± 4.9 mmHg and 32.1 ± 4.0 mmHg in group I and II, respectively. The mean postoperative intraocular pressure was 9.0 ± 1.0, 11.0 ± 3.2, 12.5 ± 0.9, 13.0 ± 2.9, and 15.5 ± 1.5 mm Hg in group I and was 10.3 ± 1.2, 12.0 ± 2.5, 13.5 ± 1.7, 15.0 ± 1.5, and 17.1 ± 2.8 mm Hg in group II at the first week and 1, 3, 6, and 12 months, respectively. There was no statistically significant difference between the mean intraocular pressure values recorded at both groups preoperatively and at each follow-up visit. Failure necessitating further surgical interventions was recorded in 4 eyes (16%) in group I as compared to 3 eyes (12%) in group II (P>0.05). Postoperative complications included mild hyphema, which occurred in one eye (4%) in group I and 2 eyes (8%) in group II, and shallow anterior chamber in 3 eyes (12%) in group I and in 2 eyes (8%) in group II. One eye (4%) in group I developed drawn-up pupil. Choroidal effusion developed in one eye (4%) at each group. Conclusion. Trimming the edges of the scleral bed adjacent to the sclera flap is a safe and effective surgical step which can be added to the subscleral trabeculectomy procedure to effectively control the intraocular pressure in patients with primary congenital glaucoma, sparing them the hazards associated with mitomycin C application.

Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations

2015 ◽  
Vol 24 (8) ◽  
pp. 630-634 ◽  
Author(s):  
Laura Morales-Fernandez ◽  
Jose M. Martinez-de-la-Casa ◽  
Javier Garcia-Bella ◽  
Carmen Mendez ◽  
Federico Saenz-Frances ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
Clinical Variability ◽  
Cyp1b1 Gene ◽  
Spanish Family

scholarly journals Open reading frame correction using antisense oligonucleotides for the treatment of cystic fibrosis caused by CFTR-W1282X

2021 ◽  
Author(s):  
Wren E. Michaels ◽  
Cecilia Pena-Rasgado ◽  
Rusudan Kotaria ◽  
Robert J. Bridges ◽  
Michelle L. Hastings
Keyword(s):  
Cystic Fibrosis ◽  
Protein Function ◽  
Antisense Oligonucleotides ◽  
Gene Mutations ◽  
Severe Form ◽  
Open Reading Frame ◽  
Common Mutation ◽  
Reading Frame ◽  
Protein Levels ◽  
Cftr Protein

CFTR gene mutations that result in the introduction of premature termination codons (PTCs) are common in cystic fibrosis (CF). This mutation type causes a severe form of the disease, likely because of low CFTR mRNA expression as a result of nonsense mediated mRNA decay (NMD), as well as production of a non-functional, truncated CFTR protein. Current therapeutics for CF, which target residual protein function, are less effective in patients with these types of mutations, due in part to low CFTR protein levels. Splice-switching antisense oligonucleotides (ASOs) designed to induce skipping of exons in order to restore the mRNA open reading frame have shown therapeutic promise pre-clinically and clinically for a number of diseases. We hypothesized that ASO-mediated skipping of CFTR exon 23 would recover CFTR activity associated with terminating mutations in the exon, including CFTR p.W1282X, the 5th most common mutation in CF. Here, we show that CFTR lacking the amino acids encoding exon 23 is partially functional and responsive to corrector and modulator drugs currently in clinical use. ASO-induced exon 23 skipping rescued CFTR expression and chloride current in primary human bronchial epithelial cells isolated from homozygote CFTR-W1282X patients. These results support the use of ASOs in treating CF patients with CFTR class I mutations in exon 23 that result in unstable CFTR mRNA and truncations of the CFTR protein.

scholarly journals Open reading frame correction using splice-switching antisense oligonucleotides for the treatment of cystic fibrosis

2022 ◽  
Vol 119 (3) ◽  
pp. e2114886119
Author(s):  
Wren E. Michaels ◽  
Cecilia Pena-Rasgado ◽  
Rusudan Kotaria ◽  
Robert J. Bridges ◽  
Michelle L. Hastings
Keyword(s):  
Cystic Fibrosis ◽  
Protein Function ◽  
Antisense Oligonucleotides ◽  
Messenger Rna ◽  
Gene Mutations ◽  
Severe Form ◽  
Open Reading Frame ◽  
Common Mutation ◽  
Reading Frame ◽  
Cftr Protein

CFTR gene mutations that result in the introduction of premature termination codons (PTCs) are common in cystic fibrosis (CF). This mutation type causes a severe form of the disease, likely because of low CFTR messenger RNA (mRNA) expression as a result of nonsense-mediated mRNA decay, as well as the production of a nonfunctional, truncated CFTR protein. Current therapeutics for CF, which target residual protein function, are less effective in patients with these types of mutations due in part to low CFTR protein levels. Splice-switching antisense oligonucleotides (ASOs), designed to induce skipping of exons in order to restore the mRNA open reading frame, have shown therapeutic promise preclinically and clinically for a number of diseases. We hypothesized that ASO-mediated skipping of CFTR exon 23 would recover CFTR activity associated with terminating mutations in the exon, including CFTR p.W1282X, the fifth most common mutation in CF. Here, we show that CFTR lacking the amino acids encoding exon 23 is partially functional and responsive to corrector and modulator drugs currently in clinical use. ASO-induced exon 23 skipping rescued CFTR expression and chloride current in primary human bronchial epithelial cells isolated from a homozygote CFTR-W1282X patient. These results support the use of ASOs in treating CF patients with CFTR class I mutations in exon 23 that result in unstable CFTR mRNA and truncations of the CFTR protein.

CYP1B1 Gene Mutation Impact on Prognosis of Primary Congenital Glaucoma

QJM ◽  
2021 ◽  
Vol 114 (Supplement_1) ◽  
Author(s):  
Noha S Mohammad ◽  
Saad M Rashad ◽  
Tarek A el Maamoun ◽  
Osama K Zaki ◽  
Thanaa H Mohamed ◽  
...  
Keyword(s):  
Surgical Outcome ◽  
Gene Mutations ◽  
Congenital Glaucoma ◽  
Primary Congenital Glaucoma ◽  
Cyp1b1 Gene ◽  
Key Factor ◽  
Mutation Impact ◽  
Surgical Failure ◽  
Cytochrome P450 Family

Abstract Background Primary congenital glaucoma (PCG) is a leading cause of childhood blindness in Egypt. The discovery of the underlying genetic causes has led to far greater understanding of disease mechanisms. Cytochrome P450, family 1, subfamily B, polypeptide 1(CYP1B1) gene mutations usually inherited in an autosomal recessive manner are one of the major etiologies behind PCG. Gene screening aids early diagnosis of PCG which is a key factor in managing and preventing blindness from the disease. Aim This study aims to screen for CYP1B1gene mutations in PCG patients and study its possible impact on surgical outcome of PCG. Methods Twenty-four PCG patients enrolled in this study underwent trabeculotomy, and were followed up at a 3 month interval for a year. Patients’ demographic details were recorded, and their genomic DNA was screened for CYP1B1 mutations. Genotypic impact on surgical outcome was compared between the group of patients who harbored mutations and the group unsolved with mutations. Results Six different disease causing CYP1B1 mutations were identified in 13 (54.17 %) of affected patients who exhibited more surgical failure at the last follow up visit. Conclusion This study further endorses CYP1B1 mutations as a possible etiological and prognostic factor for PCG.

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