ArticleMolecular genetics & genomic medicine2022
Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 6 citations in OpenAlex.
- Myhre Syndrome Presenting With Congenital Proximal Radioulnar Synostosis: A Case Report.Cureus · 2026Article
- Identification of a Novel Splice-Site Variant in CACNA1F With Variable Phenotypic Expression in a Chinese Family.Molecular genetics & genomic medicine · 2025Article
- Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.Journal of clinical medicine · 2025Review
- A novel variant in the SPTB gene underlying hereditary spherocytosis and a literature review of previous variants.BMC medical genomics · 2024Review
- Mouse all-cone retina models of Cav1.4 synaptopathy.Frontiers in molecular neuroscience · 2023Article
- Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
9 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked cone-rod dystrophy (CORDX) is one form of inherited retinal disorders (IRDs) characterized by progressive dysfunction of photoreceptor. Three types of CORDX were reported and CACNA1F gene defect can cause CORDX3. The aim of this study was to investigate the pathogenic variant in a Chinese family with IRD.
methodsThe two affected subjects including the proband and his elder sister underwent ophthalmic examinations. Whole exome sequencing (WES) was performed in the proband at first, then co-segregation analysis was performed in the family by Sanger sequencing. Minigene approach was used to verify the effect of the mutation on the splicing of CACNA1F. X-chromosomal inactivation assay was performed to evaluate the inactivation patterns of the female carriers.
resultsThe ophthalmic examination results of the proband fit the clinical description of CORDX3, and the female patient presented with only mild symptoms due to mildly skewed X-chromosomal inactivation (ratio 67: 33). Molecular genetic testing identified a novel splice-site mutation c.3847-2A > G in CACNA1F (NM_005183.4) gene in the patients, which inherited from their asymptomatic mother. Minigene approach confirmed that c.3847-2A > G could affect the splicing of CACNA1F.
conclusionOur study identified a novel splice-site mutation in the CACNA1F gene, which expanded the mutational spectrum of CACNA1F-releated diseases and demonstrated the importance of combining clinical and genetic testing in the diagnosis of IRDs.
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