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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Updated: May 29, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.

Sarah van der Ende1, Karen Bedard2, Karin Wallace3

  • 1Department of Biochemistry & Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada.

Investigative Ophthalmology & Visual Science
|February 7, 2025
PubMed
Summary
This summary is machine-generated.

Genetic testing for familial exudative vitreoretinopathy (FEVR) identified disease-causing variants (DCVs) in nearly half of patients. Four key FEVR genes were most commonly implicated, highlighting the need for further research into rarer genes.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Familial exudative vitreoretinopathy (FEVR) is a genetic disorder affecting retinal vascular development.
  • Accurate genetic diagnosis is crucial for understanding FEVR's complex etiology and inheritance patterns.

Purpose of the Study:

  • To comprehensively investigate the spectrum of gene variants in patients diagnosed with FEVR.
  • To identify disease-causing variants (DCVs) using an expanded gene panel.

Main Methods:

  • Enrolled 94 probands with FEVR and their relatives, collecting clinical data and DNA.
  • Utilized targeted next-generation sequencing and Sanger sequencing with an expanded FEVR panel (6 recognized genes + 19 associated genes).
  • Classified variants according to American College of Medical Genetics and Clinical Genome Resource Sequence Variant Interpretation (ClinGen SVI) recommendations.

Main Results:

  • Achieved molecular diagnosis in 39 (41.5%) probands, with most having a single DCV.
  • Identified 33 DCVs in four primary FEVR genes (LRP5, FZD4, TSPAN12, NDP), and 8 DCVs in associated genes (KIF11, LAMA1, DOCK6).
  • Reclassification of variants using updated criteria impacted 5.3% of probands, changing classifications from likely pathogenic to variants of uncertain significance.

Conclusions:

  • An expanded FEVR gene panel successfully detected DCVs in a significant portion of the cohort.
  • Four FEVR genes are responsible for the majority of identified cases.
  • Further investigation is warranted for the role of rare FEVR genes and candidate genes in disease pathogenesis.