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Type IV Collagen of Basal Lamina

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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The Alport syndrome COL4A5 variant database.

David K Crockett1, Genevieve Pont-Kingdon, Frederick Gedge

  • 1ARUP Laboratories, Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA. david.crockett@aruplab.com

Human Mutation
|June 25, 2010
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Summary

A new database catalogs 520 COL4A5 gene variants for X-linked Alport Syndrome (XLAS), aiding clinical diagnosis. This resource supports researchers and clinicians studying this progressive kidney disease.

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Area of Science:

  • Genetics and Molecular Biology
  • Nephrology
  • Ophthalmology
  • Audiology

Background:

  • Alport Syndrome is a progressive genetic disorder affecting kidneys, hearing, and vision.
  • The most prevalent form, X-linked Alport Syndrome (XLAS), accounts for approximately 80% of cases and results from mutations in the COL4A5 gene.

Purpose of the Study:

  • To develop a comprehensive, curated, disease-specific database for COL4A5 sequence variants.
  • To provide a centralized, accessible resource for researchers and clinical laboratories studying XLAS.

Main Methods:

  • Compilation of a database archiving 520 reported sequence variants within the COL4A5 gene.
  • Verification of variant positions and adherence to standard nomenclature.
  • Inclusion of variant details: protein effect, mutation classification, mutation type, and publication links.

Main Results:

  • The database successfully archives 520 unique COL4A5 sequence variants.
  • Each entry includes detailed information on variant characteristics and associated literature.
  • The resource offers disease information, literature links, reference sequences, and query capabilities.

Conclusions:

  • The developed database serves as a valuable reference and repository for COL4A5 variants.
  • This free online resource facilitates the study and clinical management of X-linked Alport Syndrome.