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The human TBX5 gene mutation database.

Wolfram Heinritz1, Lin Shou, Andre Moschik

  • 1Institute of Human Genetics, University of Leipzig, Medical Faculty, Leipzig, Germany.

Human Mutation
|September 1, 2005
PubMed
Summary
This summary is machine-generated.

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A new online database catalogs all known TBX5 gene mutations, crucial for understanding Holt-Oram syndrome (HOS) and congenital heart defects. This resource aids researchers in exploring genotype-phenotype relationships and TBX5 gene variations.

Area of Science:

  • Genetics
  • Molecular Biology
  • Cardiology

Background:

  • Germline mutations in the TBX5 gene cause up to 70% of Holt-Oram syndrome (HOS) cases, a disorder featuring upper limb and cardiac malformations.
  • Somatic mutations in TBX5 have also been found in various congenital heart defects, but genotype-phenotype correlations and pathogenic mechanisms remain unclear.

Purpose of the Study:

  • To introduce the 'TBX5 Gene Mutation Database,' a comprehensive online resource for germline and somatic mutations of the TBX5 gene.
  • To provide a centralized, updated collection of all reported TBX5 mutations since 1997, aiding research into HOS and congenital heart defects.

Main Methods:

  • Development of an online locus-specific database.
  • Systematic collection and curation of all published TBX5 gene mutations (germline and somatic).

Related Experiment Videos

  • Integration of mutation data with gene location, PubMed abstracts, SNP information, sequences, and literature references.

    • Main Results:

    • The database offers a complete review of the TBX5 mutation spectrum, considering clinical relevance.
    • Mutational data is linked to gene location and PubMed abstracts for easy access.
    • Additional links to related resources like SNP databases and literature enhance the database's utility.

    Conclusions:

    • The 'TBX5 Gene Mutation Database' serves as a valuable, continuously updated resource for researchers studying TBX5 gene variations.
    • This database facilitates rapid information retrieval on genetic variations within TBX5, supporting research into Holt-Oram syndrome and congenital heart defects.