ArticleMolecular vision2016
Exome sequencing identified null mutations in LOXL3 associated with early-onset high myopia.
Article in Molecular vision, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
What it found
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The trial behind it
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Who cites it
27 citing papers in PubMed, 46 citations in OpenAlex.
- Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype.Current molecular medicine · 2018Trial
- Myopia as a Global Public Health Challenge a Narrative Review.Life (Basel, Switzerland) · 2026Review
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- Rare heterozygous missense variants in VSX2 are associated with retinal detachment.PLoS genetics · 2026Article
- Integrated genetic identification and molecular dynamics simulations in a novelFrontiers in genetics · 2026Article
- 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
- Identification of pathogenic variants for the development of ultra-long axial length in myopic children.PloS one · 2025Article
- 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
- 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
- The Genetic Confirmation and Clinical Characterization of LOXL3-Associated MYP28: A Common Type of Recessive Extreme High Myopia.Investigative ophthalmology & visual science · 2023Article
- Autosomal Recessive Stickler Syndrome.Genes · 2022Review
- Loxl3 Promotes Melanoma Progression and Dissemination Influencing Cell Plasticity and Survival.Cancers · 2022Article
- Implications of lysyl oxidase-like protein 3 expression in the periodontium of diabetic rats.Journal of applied oral science : revista FOB · 2022Article
- Antenatal Mesenchymal Stromal Cell Extracellular Vesicle Therapy Prevents Preeclamptic Lung Injury in Mice.American journal of respiratory cell and molecular biology · 2022Article
- Review
- Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.Frontiers in genetics · 2020Article
- LOXL3 Function Beyond Amino Oxidase and Role in Pathologies, Including Cancer.International journal of molecular sciences · 2019Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify null mutations in novel genes associated with early-onset high myopia using whole exome sequencing.
methodsNull mutations, including homozygous and compound heterozygous truncations, were selected from whole exome sequencing data for 298 probands with early-onset high myopia. These data were compared with those of 507 probands with other forms of eye diseases. Null mutations specific to early-onset high myopia were considered potential candidates. Candidate mutations were confirmed with Sanger sequencing and were subsequently evaluated in available family members and 480 healthy controls.
resultsA homozygous frameshift mutation (c.39dup; p.L14Afs*21) and a compound heterozygous frameshift mutation (c.39dup; p.L14Afs*21 and c.594delG; p.Q199Kfs*35) in LOXL3 were separately identified in two of the 298 probands with early-onset high myopia. These mutations were confirmed with Sanger sequencing and were not detected in 1,974 alleles of the controls from the same region (507 individuals with other conditions and 480 healthy control individuals). These two probands were singleton cases, and their parents had only heterozygous mutations. A homozygous missense mutation in LOXL3 was recently reported in a consanguineous family with Stickler syndrome.
conclusionsOur results suggest that null mutations in LOXL3 are likely associated with autosomal recessive early-onset high myopia. LOXL3 is a potential candidate gene for high myopia, but this possibility should be confirmed in additional studies. LOXL3 null mutations in human beings are not lethal, providing a phenotype contrary to that in mice.
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Identifiers
26957899PMC4764606W2287693578What OpenQuestion holds
Registered trials
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.