ArticlePLoS genetics2011
Exome sequencing identifies ZNF644 mutations in high myopia.
Article in PLoS genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 94 papers, 6 of them syntheses that pooled it.
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Who cites it
94 citing papers in PubMed, 6 syntheses or guidelines pooled it, 194 citations in OpenAlex.
- SNTB1 gene polymorphisms and risk of high myopia: meta-analysis and single-center validation.Molecular vision · 2025Pooled it
- Association of 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.BMC ophthalmology · 2020Pooled it
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.Nature genetics · 2018Pooled it
- Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.Human molecular genetics · 2014Pooled it
- Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.Human molecular genetics · 2013Pooled it
- Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.PLoS genetics · 2012Pooled it
- Genome-Wide Meta-Analysis for High Myopia Provides Insights into Disease Mechanisms and Reveals a Causal Link to Primary Open-Angle Glaucoma.Ophthalmology science · 2026Article
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.Human mutation · 2026Article
- Approaches for identification of 5' UTR mutations impacting translation and protein production from neurodevelopmental disorder genes.Cell reports methods · 2025Article
- Article
- Whole-exome sequencing screening for candidate genes and potential pathogenic variants associated with early-onset high myopia in 47 Chinese families.Scientific reports · 2025Article
- Clinical and Molecular Landscape of GLRA2 in X-Linked Early-Onset High Myopia.Investigative ophthalmology & visual science · 2025Article
- Article
- Identification of LRRC46 as a novel candidate gene for high myopia.Science China. Life sciences · 2024Article
- Trio-based whole-exome sequencing reveals mutations in early-onset high myopia.BMJ open ophthalmology · 2024Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
- A Massively Parallel Screen of 5'UTR Mutations Identifies Variants Impacting Translation and Protein Production in Neurodevelopmental Disorder Genes.medRxiv : the preprint server for health sciences · 2023Article
- Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.International journal of molecular sciences · 2023Article
- Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.BMC medical genomics · 2023Article
34 more citing papers are in PubMed but not listed here.
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Authors and funding
29 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644) was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3'UTR+12 C>G, and 3'UTR+592 G>A) in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE). Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.