ArticleScientific reports2018
Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 54 citations in OpenAlex.
- Identification of candidate genes and pathways in retinopathy of prematurity by whole exome sequencing of preterm infants enriched in phenotypic extremes.Scientific reports · 2021Trial
- Exome-wide screening discovers novel pathogenic variants in Vietnamese primary congenital glaucoma patients.Genes & genomics · 2026Article
- The role of SIX6 gene in juvenile open-angle glaucoma: a subtle contributor to the mutational landscape.Japanese journal of ophthalmology · 2025Article
- New Insights into the Role of Cellular Senescence and Its Therapeutic Implications in Ocular Diseases.Bioengineering (Basel, Switzerland) · 2025Review
- Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients.Japanese journal of ophthalmology · 2025Article
- Protein misfolding and mitochondrial dysfunction in glaucoma.Frontiers in cell and developmental biology · 2025Review
- Genetic and clinical landscape of Chinese frontotemporal dementia: dominance of TBK1 and OPTN mutations.Alzheimer's research & therapy · 2024Article
- Neuroprotective effects of resveratrol on retinal ganglion cells in glaucoma in rodents: A narrative review.Animal models and experimental medicine · 2024Review
- Exploring the Genetic Landscape of Childhood Glaucoma.Children (Basel, Switzerland) · 2024Review
- The comparison of corneal densitometry in cases with glaucoma following childhood cataract surgery and juvenile glaucoma.International ophthalmology · 2024Article
- Genetic Aspects of Glaucoma: An Updated Review.Current molecular medicine · 2024Review
- Evaluation of Myocilin Variant Protein Structures Modeled by AlphaFold2.Biomolecules · 2023Article
- A rare optineurin mutation in an Indian family with coexistence of JOAG and PCG.Indian journal of ophthalmology · 2023Article
- A novel heterozygous c.733 T > G MYOC mutation associated with juvenile-onset open-angle glaucoma in a Chinese family.Eye (London, England) · 2023Article
- Review
- EFEMP1 rare variants cause familial juvenile-onset open-angle glaucoma.Human mutation · 2022Article
- Structure‒function‒pathogenicity analysis of C-terminal myocilin missense variants based on experiments and 3D models.Frontiers in genetics · 2022Article
- Mutational analysis ofSaudi journal of biological sciences · 2022Article
- The Role of Neurotrophin-4/Forkhead Box L1 in the Development of Nonsmall-Cell Lung Cancer.Contrast media & molecular imaging · 2022Article
- Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma.Indian journal of ophthalmology · 2021Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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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