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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.

Original publication

DOI

10.1111/bjh.12397

Type

Journal article

Journal

Br J Haematol

Publication Date

08/2013

Volume

162

Pages

530 - 536

Keywords

Diamond-Blackfan anaemia, molecular diagnostics, next generation sequencing, target enrichment, Adolescent, Adult, Anemia, Diamond-Blackfan, Child, Child, Preschool, Codon, Nonsense, DNA Mutational Analysis, DNA, Ribosomal, Female, Frameshift Mutation, Gene Library, High-Throughput Nucleotide Sequencing, Humans, Male, Ribosomal Proteins, Sequence Alignment, Sequence Analysis, DNA, Sequence Deletion