<i>CYP1B1</i>Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia

Abu-Amero, Khaled K.; Morales, José; Aljasim, Leyla Ali; Edward, Deepak P.

doi:10.3109/13816810.2013.841961

Cited by 19 publications

(19 citation statements)

References 6 publications

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“…Additionally, a study in 61 unrelated Taiwanese probands with JOAG and 100 control subjects revealed the prevalence of CYP1B1 mutations was 4.92% (3/61) 23. Finally, a study comprising 14 unrelated JOAG patients (in both the familial and sporadic form) and 190 control subjects in Saudi Arabia showed a high CYP1B1 mutation rate (85.7%) in patients with JOAG 24. These findings above led to the screening of CYP1B1 as a candidate gene among patients with POAG to further determine its contribution to the occurrence of POAG.…”

Section: Discussionmentioning

confidence: 95%

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Gong

et al. 2014

Br J Ophthalmol

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Section: Discussionmentioning

confidence: 95%

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Gong

et al. 2014

Br J Ophthalmol

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“…Earlier studies on families where a linkage analysis was conducted showed JOAG to be inherited as a Mendelian disorder with an autosomal dominant mode of inheritance . However, studies from Iran and Saudi Arabia showed that JOAG could manifest as a sporadic disorder or have an autosomal recessive inheritance in their population. In a study on 23 pedigrees of JOAG, Bayat et al found that majority of their JOAG patients were sporadic, 34% had autosomal recessive and 17% an autosomal dominant inheritance .…”

Section: Segregation Analysismentioning

confidence: 99%

“…Earlier studies on families where a linkage analysis was conducted showed JOAG to be inherited as a Mendelian disorder with an autosomal dominant mode of inheritance (4,38,73). However, studies from Iran and Saudi Arabia showed that JOAG could manifest as a sporadic disorder or have an autosomal recessive inheritance (19,48) 17% an autosomal dominant inheritance (19). Clinical analysis of a large number of JOAG families (n = 336), showed that JOAG occurred in a sporadic manner in most of our patients (Fig.…”

Section: Segregation Analysismentioning

confidence: 99%

The inheritance of juvenile onset primary open angle glaucoma

et al. 2017

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Juvenile onset open angle glaucoma (JOAG) affects patients before 40 years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients (n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance.

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“…Mutations of OPTN were found in POAG and amyotrophic lateral sclerosis (ALS) 13 , 14 . CYP1B1 is a PCG gene but has also been reported in association with JOAG 15 , 16 . To date, the mutations of known genes only account for approximately 5% of patients with POAG 17 .…”

Section: Introductionmentioning

confidence: 99%

“…To date, the mutations of known genes only account for approximately 5% of patients with POAG 17 . Compared with adult-onset POAG, JOAG may be more likely to be genetically determined and less likely the consequence of environment 16 . Investigation of the POAG genes in JOAG might provide a good opportunity for understanding the genetic components and heterogeneity of JOAG.…”

Section: Introductionmentioning

confidence: 99%

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

Huang

Xie

et al. 2018

Sci Rep

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Juvenile onset open-angle glaucoma (JOAG) affects patients before 40 years of age, causing high intraocular pressure and severe optic nerve damage. To expand the mutation spectrum of the causative genes in JOAG, with a view to identify novel disease-causing mutations, we investigated MYOC, OPTN, NTF4, WDR36 and CYP1B1 in a cohort of 67 unrelated Chinese JOAG patients. Whole exome sequencing was used to identify possible pathogenic mutations, which were further excluded in normal controls. After sequencing and the use of a database pipeline, as well as predictive assessment filtering, we identified a total of six mutations in three genes, MYOC, OPTN and CYP1B1. Among them, 2 heterozygous mutations in MYOC (c. 1109C > T, p. (P370L); c. 1150G > C, p. (D384H)), 2 heterozygous mutations in OPTN (c. 985A > G, p.(R329G); c. 1481T > G, p. (L494W)) and 2 homozygous mutations in CYP1B1 (c. 1412T > G, p.(I471S); c. 1169G > A, p.(R390H)) were identified as potentially causative mutations. No mutation was detected in NTF4 or WDR36. Our results enrich the mutation spectra and frequencies of MYOC, OPTN and CYP1B1 in JOAG among the Chinese population. Further studies are needed to address the pathogenicity of each of the mutations detected in this study.

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CYP1B1Mutations are a Major Contributor to Juvenile-Onset Open Angle Glaucoma in Saudi Arabia

Cited by 19 publications

References 6 publications

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

Mutation spectrum ofCYP1B1in Chinese patients with primary open-angle glaucoma

The inheritance of juvenile onset primary open angle glaucoma

Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing

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