Figure 3 - uploaded by Valeria Cinquina
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Visualization with the Alamut Visual software, version 2.15, of the BAM files obtained by the Ion Torrent Suite software 5.12 showing the absence of the PTPN11 c.1381G>A, (p.Ala461Thr) missense substitution (NCBI accession: NM_002834.3, NP_002825.3) in peripheral blood DNA (left) and the presence of the pathogenic variant (total number of reads: 333, number of wild type reads: 293, 88 %, number of variant reads: 40, 12 %) in nevus spilus DNA (right) (a). Sanger sequencing confirmed the post-zygotic mosaicism, since in each biopsy (nevus spilus, nevus roseus, and overlapping area of nevus spilus and nevus roseus) the variant was observed at very low levels, yet was undetectable in peripheral blood (arrows) (b).
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Context 1
... in depth-WES of nevus spilus DNA and phenotype-based prioritization of somatic candidate variants with the Phenolyzer tool from WGLab (http://phenolyzer.wglab.org) identified in exon 12 of the PTPN11 gene Sanger sequencing performed on DNA from the blood and skin samples confirmed the post-zygotic mosaicism of the PTPN11 variant, since in each biopsy the mutation was observed at very low levels and was undetectable in peripheral blood ( Figure 3). Since diagnosis, the patient is being reassessed every six months in dermatology, neurology and cardiology units and no complications have been found so far. ...
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