Journal
BRITISH JOURNAL OF HAEMATOLOGY
Volume 162, Issue 4, Pages 530-536Publisher
WILEY
DOI: 10.1111/bjh.12397
Keywords
Diamond-Blackfan anaemia; next generation sequencing; target enrichment; molecular diagnostics
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Funding
- Imperial Healthcare Comprehensive Biomedical Research Centre
- MRC [MC_U120061454] Funding Source: UKRI
- Medical Research Council [MC_U120061454] Funding Source: researchfish
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Diamond-Blackfan anaemia (DBA) is caused by inactivating mutations in ribosomal protein (RP) genes, with mutations in 13 of the 80 RP genes accounting for 50-60% of cases. The remaining 40-50% cases may harbour mutations in one of the remaining RP genes, but the very low frequencies render conventional genetic screening as challenging. We, therefore, applied custom enrichment technology combined with high-throughput sequencing to screen all 80 RP genes. Using this approach, we identified and validated inactivating mutations in 15/17 (88%) DBA patients. Target enrichment combined with high-throughput sequencing is a robust and improved methodology for the genetic diagnosis of DBA.
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