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• W2269494669 abstract "<h3>Background</h3> Somatic mosaicism is being increasingly recognised as an important cause of non-Mendelian presentations of hereditary syndromes. A previous whole-exome sequencing study using DNA derived from peripheral blood identified mosaic mutations in <i>DICER1</i> in two children with overgrowth and developmental delay as well as more typical phenotypes of germline <i>DICER1</i> mutation. However, very-low-frequency mosaicism is difficult to detect, and thus, causal mutations can go unnoticed. Highly sensitive, cost-effective approaches are needed to molecularly diagnose these persons. We studied four children with multiple primary tumours known to be associated with the DICER1 syndrome, but in whom germline <i>DICER1</i> mutations were not detected by conventional mutation detection techniques. <h3>Methods and results</h3> We observed the same missense mutation within the <i>DICER1</i> RNase IIIb domain in multiple tumours from different sites in each patient, raising suspicion of somatic mosaicism. We implemented three different targeted-capture technologies, including the novel HaloPlex^HS (Agilent Technologies), followed by deep sequencing, and confirmed that the identified mutations are mosaic in origin in three patients, detectable in 0.24–31% of sequencing reads in constitutional DNA. The mosaic origin of patient 49s mutation remains to be unequivocally established. We also discovered likely pathogenic second somatic mutations or loss of heterozygosity (LOH) in tumours from all four patients. <h3>Conclusions</h3> Mosaic <i>DICER1</i> mutations are an important cause of the DICER1 syndrome in patients with severe phenotypes and often appear to be accompanied by second somatic truncating mutations or LOH in the associated tumours. Furthermore, the molecular barcode-containing HaloPlex^HS provides the sensitivity required for detection of such low-level mosaic mutations and could have general applicability." @default.
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• W2269494669 date "2015-10-16" @default.
• W2269494669 modified "2023-10-10" @default.
• W2269494669 title "High-sensitivity sequencing reveals multi-organ somatic mosaicism causing DICER1 syndrome" @default.
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• W2269494669 doi "https://doi.org/10.1136/jmedgenet-2015-103428" @default.
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• W2269494669 hasPublicationYear "2015" @default.
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