ArticlePeerJ2018
Exome sequencing study of 20 patients with high myopia.
Article in PeerJ, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Genetic background of high myopia in children.PloS one · 2024Article
- Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.Ophthalmology science · 2023Article
- Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.International journal of molecular sciences · 2023Article
- Screening of genes interacting with high myopia and neuropsychiatric disorders.Scientific reports · 2023Article
- Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.Communications biology · 2023Article
- Whole exome sequencing of known eye genes reveals genetic causes for high myopia.Human molecular genetics · 2022Observational
- Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.International journal of molecular sciences · 2022Article
- SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.Journal of cellular and molecular medicine · 2021Article
- Article
- Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.Frontiers in cell and developmental biology · 2021Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHigh myopia is a common ocular disease worldwide. To expand our current understanding of the genetic basis of high myopia, we carried out a whole exome sequencing (WES) study to identify potential causal gene mutations.
methodsA total of 20 individuals with high myopia were exome sequenced. A novel filtering strategy combining phenotypes and functional impact of variants was applied to identify candidate genes by multi-step bioinformatics analyses. Network and enrichment analysis were employed to examine the biological pathways involved in the candidate genes.
resultsIn 16 out of 20 patients, we identified 20 potential pathogenic gene variants for high myopia. A total of 18 variants were located in myopia-associated chromosomal regions. In addition to the novel mutations found in five known myopia genes ( DISCUSSION: Systematic mutation analysis of candidate genes was performed using WES data, functional interaction (FI) network, Gene Ontology and pathway enrichment. FI network analysis revealed important network modules and regulator linker genes (
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