ArticleMolecular vision2014
New ZNF644 mutations identified in patients with high myopia.
Article in Molecular vision, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Polymorphism in the RASGRF1 gene with high myopia: A meta-analysis.Molecular vision · 2015Pooled it
- P4HA2 Participates in Pathogenesis of Refractive Error by Regulating Collagen Posttranslational Modification and Extracellular Matrix Balance.Human mutation · 2026Article
- Novel Splicing Variants in the ARR3 Gene Cause the Female-Limited Early-Onset High Myopia.Investigative ophthalmology & visual science · 2024Article
- Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.International journal of molecular sciences · 2023Article
- The Profiles and Functions of RNA Editing Sites Associated with High-Altitude Adaptation in Goats.International journal of molecular sciences · 2023Article
- Evaluation ofEye and vision (London, England) · 2019Article
- Myopia disease mouse models: a missense point mutation (S673G) and a protein-truncating mutation of theCell & bioscience · 2019Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Association between SCO2 mutation and extreme myopia in Japanese patients.Japanese journal of ophthalmology · 2016Article
- Oxidative stress in myopia.Oxidative medicine and cellular longevity · 2015Review
Corrections and comments
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeMyopia, or near-sightedness, is one of the most common human visual impairments worldwide, and high myopia is one of the leading causes of blindness. In this study, we investigated the mutation spectrum of ZNF644, a causative gene for autosomal dominant high myopia, in a high-myopia cohort from a Chinese population.
methodsDNA was isolated with the standard proteinase K digestion and phenol-chloroform method from a case cohort of 186 subjects diagnosed with high myopia (spherical refractive error equal or less than -6.00 diopters). Sanger sequencing was performed to find potential mutations in all coding exons, flanking splicing sites, and untranslated regions (UTRs) of ZNF644 (NM_201269). Identified novel variants were further screened in 526 ethnically matched normal controls. Functional prediction and conservation analysis were performed using ANNOVAR.
resultsFive novel variants were identified. Three are missense (c.1201A>G:p.T401A, c.2867C>G:p.T956S, c.3833A>G:p.E1278G), one is synonymous (c.2565A>G:p.T855T), and one (c.-219C>A) is located in the 5' UTR. Functional prediction indicates that c.3833A>G:p.E1278G was predicted to be damaging by SIFT and Polyphen2. Conservation analysis using PhyloP and GERP++ indicate all of the missense variants are highly conserved. None of these novel mutations was identified in 526 normal controls.
conclusionsZNF644 is associated with high myopia in a cohort from a Chinese population. ZNF644 mutations have a minor contribution to the genetic etiology of high myopia.
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Identifiers
24991186PMC4077594W1619101203What OpenQuestion holds
Registered trials
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