Article Text

other Versions

PDF
Blood derived gene expression profiling in unraveling recessive disease susceptibility
  1. Pia Vahteristo (pia.vahteristo{at}helsinki.fi)
  1. University of Helsinki, Finland
    1. Antti Kokko (antti.kokko{at}helsinki.fi)
    1. University of Helsinki, Finland
      1. Olli Saksela (olli.saksela{at}hus.fi)
      1. Helsinki University Central Hospital, Finland
        1. Kristiina Aittomaki (kristiina.aittomaki{at}hus.fi)
        1. Helsinki University Central Hospital, Finland
          1. Lauri A Aaltonen (lauri.aaltonen{at}helsinki.fi)
          1. University of Helsinki, Finland

            Abstract

            Identification of new disease predisposition genes with chip-based technologies typically requires extensive financial and sample resources. We have recently shown that combining peripheral blood genome and transcriptome (BGT) information in highly selected materials can be a successful low-cost approach in unraveling dominant tumor susceptibility. Here we have extended our studies to recessively inherited tumor predisposition, and identified a homozygous germline mutation in the damage-specific DNA binding protein 2 (DDB2) gene in a patient with several facial tumors and previously unsolved diagnosis. Our results provide proof-of-principle that BGT is a powerful approach both in dominant and recessive setting. Besides tumor susceptibility, the method may be useful in characterizing a genetic defect underlying any other disease phenotype.

            • DDB2
            • Xeroderma pigmentosum
            • blood
            • complementation group E
            • expression profiling

            Statistics from Altmetric.com

            Request permissions

            If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.