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Related Experiment Videos

The EAHAD blood coagulation factor VII variant database.

Muriel Giansily-Blaizot1, Pavithra M Rallapalli2, Stephen J Perkins2

  • 1Hematologie Biologique, CHU Montpellier, University of Montpellier, Montpellier, France.

Human Mutation
|April 26, 2020
PubMed
Summary

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This summary is machine-generated.

A new database integrates genetic variants for coagulation factor VII (FVII) deficiency, aiding pathogenicity assessment. This resource aids understanding of rare bleeding disorders caused by F7 gene variants.

Area of Science:

  • Genetics
  • Hematology
  • Bioinformatics

Background:

  • Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder.
  • Variants in the F7 gene cause FVII deficiency, impacting blood clotting.
  • Interpreting the pathogenicity of novel F7 variants requires integrating genetic data with functional consequences.

Purpose of the Study:

  • To create a unified, curated database of F7 gene variants by integrating previous locus-specific databases.
  • To enhance the assessment of variant pathogenicity by providing in silico analyses, cross-species alignments, structural information, and functional/clinical data.
  • To share comprehensive variant data with the F7 Leiden Open Variation Database.

Main Methods:

  • Integration of existing locus-specific databases for the F7 gene.
Keywords:
LSDBblood coagulation disordersfactor VII deficiencygenetic variationhemostasis

Related Experiment Videos

  • Development of a curated database with enhanced features for variant information.
  • Inclusion of in silico analyses, cross-species sequence alignments, and structural/functional/clinical data for each variant.

    • Main Results:

    • The updated database contains 221 unique F7 variants from 728 individuals.
    • Single nucleotide variants (88%) are most common, with missense variants (74%) predominating.
    • Some non-pathogenic variants with high minor allele frequencies significantly influence the pathogenicity assessment of coinherited variants due to their effect on FVII levels.

    Conclusions:

    • The comprehensive, curated F7 variant database significantly aids in assessing variant pathogenicity.
    • This integrated resource facilitates a better understanding of FVII deficiency and its genetic basis.
    • The database serves as a valuable tool for researchers and clinicians studying rare bleeding disorders.