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 to unravelling dominant tumour susceptibility. In this study, we extended our investigations to recessively inherited tumour predisposition, and identified a homozygous germline mutation in the damage-specific DNA binding protein 2 (DDB2) gene in a patient with several facial tumours, for which doctors had been unable to provide a diagnosis. Our results provide proof of principle that BGT is a powerful approach for both dominant and recessive genes. In addition to tumour susceptibility, the method may be useful in characterising genetic defects underlying other disease phenotypes.
- Xeroderma igmentosum
- complementation group E
- expression profiling
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Ethics approval: Patient information and samples were obtained with full informed consent. The study was approved by the appropriate ethics review committee of the Hospital District of Helsinki and Uusimaa.
Funding: This work has been financially supported by the Academy of Finland (Center of Excellence in Translational Genome-Scale Biology 2006–2010, grant 212901 for PV) and Finnish Cultural Foundation.
Competing interests: None.
- blood genome and transcriptome
- damage-specific DNA binding protein 2
- nucleotide excision repair
- unscheduled DNA synthesis
- xeroderma pigmentosum
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