ArticleScientific reports2017
Mutational screening of SLC39A5, LEPREL1 and LRPAP1 in a cohort of 187 high myopia patients.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 30 citations in OpenAlex.
- Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.Human mutation · 2026Review
- Article
- Review
- A rare missenseInternational journal of ophthalmology · 2024Article
- 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
- SLC39A5 dysfunction impairs extracellular matrix synthesis in high myopia pathogenesis.Journal of cellular and molecular medicine · 2021Article
- Intravitreal brimonidine inhibits form-deprivation myopia in guinea pigs.Eye and vision (London, England) · 2021Article
- Mutational screening ofMolecular vision · 2021Article
- Whole-Exome Sequencing in a Cohort of High Myopia Patients in Northwest China.Frontiers in cell and developmental biology · 2021Article
- Maintenance of Intestinal Epithelial Homeostasis by Zinc Transporters.Digestive diseases and sciences · 2019Review
- Rare Variants in Known Susceptibility Loci and Their Contribution to Risk of Lung Cancer.Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer · 2018Article
- Recent Advances in the Role of SLC39A/ZIP Zinc Transporters In Vivo.International journal of molecular sciences · 2017Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High myopia (HM) is a leading cause of mid-way blindness with a high heritability in East Asia. Although only a few disease genes have been reported, a small proportion of patients could be identified with genetic predispositions. In order to expand the mutation spectrum of the causative genes in Chinese adult population, we investigated three genes, SLC39A5, LEPREL1 and LRPAP1, in a cohort of 187 independent Chinese patients with high myopia. Sanger sequencing was used to find possible pathogenic mutations, which were further screened in normal controls. After a pipeline of database and predictive assessments filtering, we, thereby, identified totally seven heterozygous mutations in the three genes. Among them, three novel missense mutations, c.860C > T, p.Pro287Leu and c.956G > C, p.Arg319Thr in SLC39A5, c.1982A > G, p.Lys661Arg in LEPREL1, were identified as potentially causative mutations. Additionally, the two heterozygous mutations (c.1582G > A, p.Ala528Thr; c.1982A > G, p.Lys661Arg) in one patient in LEPREL1 gene were reported in this study. Our findings will not only augment the mutation spectrum of these three genes, but also provide insights of the contribution of these genes to adult high myopia in Chinese. However, further studies are still needed to address the pathogenicity of each of the mutations reported in this study.
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