<i>CYP1B1</i>Gene Mutations Causing Primary Congenital Glaucoma in Tunisia

Bouyacoub, Yosra; Yahia, Salim Ben; Abroug, Nesrine; Kahloun, Rim; Kéfi, Rym; Khairallah, Moncef; Abdelhak, Sonia

doi:10.1111/ahg.12069

Cited by 12 publications

(7 citation statements)

References 30 publications

(44 reference statements)

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“…This mutation has been introduced into North Africa and Southern Europe during the Arab invasion in the seventh century. 16 The Saudi study also confirms that CYP1B1 mutations are the most common cause of PGC in their population, with the p.Gly61Glu as the main mutation. 7 This mutation has also been discovered in Iran and Portugal.…”

Section: In the Middle-eastsupporting

confidence: 52%

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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Section: In the Middle-eastsupporting

confidence: 52%

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Chouiter

Nadifi

2017

J Pediatr Genet

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“…Interestingly, mutations affecting the same position have been reported before in patients from diverse ethnic background, for example, Proline was mutated into Leucine (p.P437L) in PCG patients from Turkey (Stoilov et al, 1998), Brazil (Stoilov et al, 2002), Pakistan (Rashid et al, 2019), Siberia (Ivanoshchuk et al, 2020) and China as well (Cai et al, 2021). In the same context, Proline was also mutated into Alanine (p.P437A) in a Tunisian patient (Bouyacoub et al, 2014). Proline at this position is located at the surface of the protein, presumably providing structural firmness resulting from the rigid properties of Proline, hence mutations at this position could affect the normal structural configuration (Rashid et al, 2019).…”

Section: Discussionmentioning

confidence: 72%

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Elkhouly

Amer²,

Ismail³

et al. 2022

Middle East Journal of Medical Genetics

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Background: Primary Congenital Glaucoma (PCG) is a critical disease that can lead to blindness if left untreated. It is considered the most common type among pediatric glaucoma cases. Mutations in CYP1B1 gene are the predominant cause for the disease in most cases especially in the Middle East and North Africa regions where high consanguinity rates are reported. Purpose: Reporting a new PCG case from Egypt harboring a novel variant in CYP1B1. Patients and Methods:The patient underwent a full clinical examination, reporting visible symptoms, and measuring both eyes' IOP and corneal diameter. Genetic testing of CYP1B1 was performed using Sanger sequencing. Results: The patient was found to carry compound heterozygous missense variants: c.1310C>G (p.P437R) and c.1320T>G (p.F440L). Of them, the c.1310C>G (p.P437R) was not reported before. Conclusions: We detected a new variant in CYP1B1 expanding the mutational spectrum of this rare disorder. Further, identifying an additional case with biallelic CYP1B1 variants strongly supports the critical role this gene possesses to PCG phenotype.

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“…PCG affected a significant proportion of children in Maghreb. 20 The analysis of ADN sequence for 18 unrelated Tunisian family revealed a 535delG, p. Gly61Glu, and the two new alterations p.Pro437Ala and p.Phe231Ile. 7 It helped us to identify an Important relation between CYP1B1 haplotypes and population's migrations flows (Table 2).…”

Section: Table 2 (Continued)mentioning

confidence: 99%

Analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

Haddad

Boujmia

Maaloum

et al. 2021

European Journal of Ophthalmology

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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.

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CYP1B1Gene Mutations Causing Primary Congenital Glaucoma in Tunisia

Cited by 12 publications

References 30 publications

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

A novel missense variant in CYP1B1 in an Egyptian patient with Primary Congenital Glaucoma

Analysis of CYP1B1 gene mutations in primary congenital glaucoma patients

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