Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients From Different Ethnic Groups of the Israeli Population

Geyer, Orna; Wolf, Alvit; Levinger, E.; Harari-Shacham, Amalia; Walton, David S.; Shochat, Chen; Korem, Sigal; Bercovich, Dani

doi:10.1016/j.ajo.2010.08.038

Cited by 26 publications

(15 citation statements)

References 27 publications

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“…Buildup of MYOC proteins can block the flow of the aqueous humor through the trabecular meshwork, resulting in increased IOP and subsequent optic nerve damage. MYOC mutations have been shown to follow a Mendelian mode of inheritance in families of varied ethnic backgrounds with juvenile glaucoma (35-38); these findings suggest that variants in MYOC significantly influence the protein structure stability. Mutations of a less deleterious nature likely account for some of the population-based studies that have found that MYOC mutations contribute to risk of POAG in a small subset of patients (3-4%) whose conditions are not solely explained by MYOC variants (39;40).…”

Section: Genetic Epidemiology Of Poagmentioning

confidence: 99%

Primary Open-Angle Glaucoma Genetics in African Americans

Restrepo

Bailey

2017

Curr Genet Med Rep

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Purpose of review Individuals of African descent are at highest risk for developing primary open-angle glaucoma (POAG), a devastating disease and major contributor of blindness worldwide. Currently, there is a large dearth of knowledge in this area despite a critical need for better understanding the underlying genetic and environmental factors afflicting this population. Here we highlight the current literature exploring the genetics of POAG in African Americans. Recent findings Current studies have yet to replicate European POAG index variants (i.e. CDKN2B-AS1 and SIX1/SIX6) in African Americans or to definitely exclude that these loci contribute to risk in African descent populations. Recent studies have evaluated clinical features that may account for some differences in POAG risk between African Americans and European Americans. Summary In summary, little headway has been made in elucidating the genetics of primary open-angle glaucoma in African Americans and other individuals of African descent.

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Section: Genetic Epidemiology Of Poagmentioning

confidence: 99%

Primary Open-Angle Glaucoma Genetics in African Americans

Restrepo

Bailey

2017

Curr Genet Med Rep

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“…It has also been found in different populations, including the Middle East, Arab, European, and Asian. [20][21][22] The p.Glu229Lys and p.Arg444Gln mutations were identified in a Lebanese family. Although the mutation p. Glu229Lys was described in several ethnic groups, 20,23,24 the p.Arg444Gln has never been reported before in the Arab population.…”

Section: In the Middle-eastmentioning

confidence: 99%

“…[20][21][22] The p.Glu229Lys and p.Arg444Gln mutations were identified in a Lebanese family. Although the mutation p. Glu229Lys was described in several ethnic groups, 20,23,24 the p.Arg444Gln has never been reported before in the Arab population. However, it has been reported in Japanese, French, 25,26 and Korean patients.…”

Section: In the Middle-eastmentioning

confidence: 99%

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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“…Several reports have identified mutations in patients with isolated Peters or Axenfeld-Rieger anomaly, typically in association with glaucoma [83-86]. Three out of 11 patients with anterior segment defects had only a single heterozygous mutation identified, suggesting that there may be a second mutation in a CYP1B1 regulatory region that is yet to be identified, or a mutation in a second gene which contributes to the phenotype, as has been reported for CYP1B1 and MYOC in primary congenital and juvenile onset glaucoma [87-89]. …”

Section: Autosomal Recessive Anterior Segment Dysgenesesmentioning

confidence: 99%

Genetics of anterior segment dysgenesis disorders

Reis

Semina

2011

Current Opinion in Ophthalmology

141

123

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Purpose of review Anterior segment dysgenesis (ASD) disorders encompass a spectrum of developmental conditions affecting the cornea, iris, and lens and are generally associated with an approximate 50% risk for glaucoma. These conditions are characterized by both autosomal dominant and recessive patterns of inheritance often with incomplete penetrance/variable expressivity. This article summarizes what is known about the genetics of ASD disorders and reviews recent developments. Recent findings Mutations in Collagen 4A1 (COL4A1) and Beta-1,3-glucosyltransferase (B3GALTL) have been reported in ASD patients. Novel findings in other well-known ocular genes are also presented, among which regulatory region deletions in PAX6 and PITX2 are most notable. Summary Although a number of genetic causes have been identified, many ASD conditions are still awaiting genetic elucidation. The majority of characterized ASD genes encode transcription factors, several factors represent extracellular matrix related proteins. All of the involved genes play active roles in ocular development and demonstrate conserved functions across species. The use of novel technologies, such as whole genome sequencing/comparative genomic hybridization, is likely to broaden the mutation spectrums in known genes and assist in the identification of novel causative genes as well as modifiers explaining the phenotypic variability of ASD conditions.

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Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients From Different Ethnic Groups of the Israeli Population

Cited by 26 publications

References 27 publications

Primary Open-Angle Glaucoma Genetics in African Americans

Primary Open-Angle Glaucoma Genetics in African Americans

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma

Genetics of anterior segment dysgenesis disorders

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