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https://www.selleckchem.com/products/px-478-2hcl.html BACKGROUND The development of Whole-Exome sequencing (WES) and Whole-Genome sequencing (WGS) for clinical purpose allows now to identify multiple pathogenic variants in a patient with a rare disease. Even when a single causative gene was initially suspected. We present here the case of an 8-year-old patient, with global developmental delay and dysmorphic features, with possibly pathogenic variant in 3 distinct genes. METHODS Trio based exome sequencing was performed thanks to IntegraGen SA (Evry, France), on Illumina HiSeq4000 (Illumina, San Diego, California). Sanger sequencing was performed to confirm variants found. RESULTS WES showed the presence of three possibly deleterious variants KMT2A c.9068delA;p.Gln3023Argfs*3 de novo, PAX3 c.530C>G ;p.Ala177Gly de novo and DLG3 c.127delG;p.Asp43Metfs*22 hemizygous inherited from the mother. KMT2A pathogenic variants are involved in Wiedemann-Steiner syndrome, and PAX3 is the gene responsible for Waardenburg syndrome. DLG3 variants have been described in a non-syndromic X-related intellectual disability. CONCLUSIONS Considering the dysmorphic features and intellectual disability presented by this patient, these three variants were therefore imputed as pathogenic and their association responsible for his phenotype. Dual molecular diagnoses were already found by WES in several cohorts (Yang et al. Posey et al., Rossi & al.) with an average of diagnostic yield of 7%. This case demonstrates and reminds us of the importance of analyzing exomes rigorously and exhaustively because it can explain in some cases ( less then 10%) superimposed traits or blended phenotypes. This article is protected by copyright. All rights reserved.RATIONALE Laser ablation combined with mass spectrometry forms a promising tool for chemical depth profiling of solids. At irradiations near the ablation threshold, high depth resolutions are achieved. However, at these conditions, a large fraction of

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