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Targeted next generation sequencing reveals a novel intragenic deletion of the tpo gene in a family with intellectual disability
Archives of Medical Research, 08/10/2012
Iqbal Z et al. – Next generation sequencing (NGS) is a powerful method to uncover submicroscopic structural variations. This result demonstrates that an unbiased screening approach such as NGS can help to identify even unexpected disease–causing mutations.
Methods- Genotyping was carried out using 250k and 6k SNP microarrays in order to perform homozygosity mapping and copy number variation (CNV) analysis.
- Targeted NGS was performed to identify the genetic defect in this family.
- qPCR was performed to validate and confirm the NGS result.
- Homozygosity mapping positioned the causative defect on chromosome 2p25.3–p25.2.
- Subsequent targeted NGS revealed an intragenic deletion of five exons of the gene TPO.