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.
- Xeroderma pigmentosum
- complementation group E
- expression profiling
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