ArticleAmerican journal of human genetics2013
Mutations in SCO2 are associated with autosomal-dominant high-grade myopia.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.Nature genetics · 2018Pooled it
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- 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
- Exome-wide genetic risk score (ExGRS) to predict high myopia across multi-ancestry populations.Communications medicine · 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
- Novel mutations of the X-linked genes associated with early-onset high myopia in five Chinese families.BMC medical genomics · 2023Article
- Association of mitochondrial DNA variation with high myopia in a Han Chinese population.Molecular genetics and genomics : MGG · 2023Article
- Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Molecular genetics and genomics : MGG · 2023Article
- Familial Whole Exome Sequencing Study of 30 Families With Early-Onset High Myopia.Investigative ophthalmology & visual science · 2023Article
- Gene expression profile analyses to identify potential biomarkers for myopia.Eye (London, England) · 2023Article
- Review
- 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
- Phenotypic Variability in Phelan-McDermid Syndrome and Its Putative Link to Environmental Factors.Genes · 2022Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- Analysis of Multifactor-Driven Myopia Disease Modules to Guide Personalized Treatment and Drug Development.Computational and mathematical methods in medicine · 2022Article
- Prenatal and postnatal diagnosis of Phelan-McDermid syndrome: A report of 21 cases from a medical center and review of the literature.Frontiers in genetics · 2022Article
- Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by BiallelicNeurology. Genetics · 2021Article
- Genotype-phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes.American journal of medical genetics. Part A · 2021Review
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 4 countries.
Funding
Abstract
Myopia, or near-sightedness, is an ocular refractive error of unfocused image quality in front of the retinal plane. Individuals with high-grade myopia (dioptric power greater than -6.00) are predisposed to ocular morbidities such as glaucoma, retinal detachment, and myopic maculopathy. Nonsyndromic, high-grade myopia is highly heritable, and to date multiple gene loci have been reported. We performed exome sequencing in 4 individuals from an 11-member family of European descent from the United States. Affected individuals had a mean dioptric spherical equivalent of -22.00 sphere. A premature stop codon mutation c.157C>T (p.Gln53*) cosegregating with disease was discovered within SCO2 that maps to chromosome 22q13.33. Subsequent analyses identified three additional mutations in three highly myopic unrelated individuals (c.341G>A, c.418G>A, and c.776C>T). To determine differential gene expression in a developmental mouse model, we induced myopia by applying a -15.00D lens over one eye. Messenger RNA levels of SCO2 were significantly downregulated in myopic mouse retinae. Immunohistochemistry in mouse eyes confirmed SCO2 protein localization in retina, retinal pigment epithelium, and sclera. SCO2 encodes for a copper homeostasis protein influential in mitochondrial cytochrome c oxidase activity. Copper deficiencies have been linked with photoreceptor loss and myopia with increased scleral wall elasticity. Retinal thinning has been reported with an SC02 variant. Human mutation identification with support from an induced myopic animal provides biological insights of myopic development.
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Registered trials
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