ArticleHuman molecular genetics2019
CPSF1 mutations are associated with early-onset high myopia and involved in retinal ganglion cell axon projection.
Article in Human molecular genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- Clinical features of early-onset high myopia in Chinese children: attention to comorbidities.BMC ophthalmology · 2025Observational
- 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
- Electroacupuncture alleviates damage to myopic RGCs probably through lncRNA-XR_002789763.1-mediated mitophagy.Chinese medicine · 2025Article
- Identification of pathogenic variants for the development of ultra-long axial length in myopic children.PloS one · 2025Article
- Article
- Review
- Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
- Defect ofInternational journal of molecular sciences · 2023Article
- LncRNA-XR_002792574.1-mediated ceRNA network reveals potential biomarkers in myopia-induced retinal ganglion cell damage.Journal of translational medicine · 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
- 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
- Molecular Insights into mRNA Polyadenylation and Deadenylation.International journal of molecular sciences · 2022Review
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.Nature communications · 2022Article
- CPSF1 positively regulates NSDHL by alternative polyadenylation and promotes gastric cancer progression.American journal of cancer research · 2022Article
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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
High myopia is a severe form of nearsightedness, which can result in blindness due to its associated complications. While both genetic and environmental factors can cause high myopia, early-onset high myopia (eoHM), which is defined as high myopia that occurs before school age, is considered to be caused mainly by genetic variations, with minimal environmental involvement. Here we report six rare heterozygous loss-of-function (LoF) variants in CPSF1 that were identified in six of 623 probands with eoHM but none of 2657 probands with other forms of genetic eye diseases; this difference was statistically significant (P = 4.60 × 10-5, Fisher's exact test). The six variants, which were confirmed by Sanger sequencing, were c.3862_3871dup (p.F1291*), c.2823_2824del (p.V943Lfs*65), c.1858C>T (p.Q620*), c.15C>G (p.Y5*), c.3823G>T (p.D1275Y) and c.4146-2A>G. Five of these six variants were absent in existing databases, including gnomAD, 1000G and EVS. The remaining variant, c.4146-2A>G, was present in gnomAD with a frequency of 1/229918. Clinical data demonstrated eoHM in the six probands with these mutations. Knockdown of cpsf1 by morpholino oligonucleotide (MO) injection in zebrafish eggs resulted in small eye size in 84.38% of the injected larvae, and this phenotype was rescued in 61.39% of the zebrafish eggs when the cpsf1 MO and the cpsf1 mRNA were co-injected. The projection of retinal ganglion cell (RGC) towards the tectum was abnormal in cpsf1 morphants. Thus, we demonstrated that heterozygous LoF mutations in CPSF1 are associated with eoHM and that CPSF1 may play an important role in the development of RGC axon projection.
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