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Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy
Yuqiao Ju1,2, Tianhui Chen1,2, Lu Ruan1,2
1Department of Ophthalmology and Vision Science, Eye and ENT Hospital of Fudan University, 83 Fenyang Rd, Shanghai, 200031, China.
Human Genomics
|February 29, 2024
Summary
New TSPAN12 gene mutations were identified in familial exudative vitreoretinopathy (FEVR) patients. These mutations disrupt TSPAN12 protein levels, potentially causing FEVR and impacting genetic diagnostics.
Area of Science:
- Genetics
- Ophthalmology
- Molecular Biology
Background:
- Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vasculature.
- The TSPAN12 gene plays a crucial role in ocular development and vascular integrity.
Purpose of the Study:
- To identify novel TSPAN12 mutations associated with a unique FEVR phenotype.
- To elucidate the molecular mechanism by which an intronic TSPAN12 variant leads to FEVR.
Main Methods:
- Panel-based next-generation sequencing (NGS) was used to detect TSPAN12 mutations.
- MINI-Gene assays and vector construction assessed mRNA splicing and protein expression.
- In vitro cell transfection studies evaluated the impact of mutations on TSPAN12 levels.
Main Results:
- Nine TSPAN12 mutations, including novel variants, were identified in FEVR patients.
- A novel intronic variant caused aberrant mRNA splicing, leading to exon skipping.
- Mutant TSPAN12 triggered nonsense-mediated decay (NMD), significantly reducing protein levels.
Conclusions:
- Novel TSPAN12 mutations can cause FEVR through reduced TSPAN12 protein expression.
- Intronic variant analysis is crucial for diagnosing FEVR and for genetic counseling.
- Understanding TSPAN12's role in microfibril assembly is key to FEVR pathogenesis.
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