1. Triple Diagnosis established by Whole Exome Sequencing

Triple Diagnosis established by Whole Exome Sequencing

Zafer Yüksel, MD 1 Jóri Balázs 1 Maria Calvo 1 Andre Megarbane 2 Oliver Brandau, MD 1 Prof. Peter Bauer, MD 1, 3 Prof. Arndt Rolfs, MD 1, 4
1 CENTOGENE AG 2 Institut Jerome Lejeune, Paris, France 3 University Hospital of Tübingen 4 University of Rostock
November 03, 2017

These findings were presented at the ASHG 2017 annual conference.


Whole exome sequencing (WES) was requested to determine the possible genetic cause of symptoms (table 1, figure 1) for a 37-year-old Lebanese patient. WES performed on Illumina Platform only for the index (Nextera Rapid Capture Exome Kit, ~95% of target bases were covered at ≥10x). All disease-causing variants reported in HGMD®, in ClinVar or in CentoMD® (class 1), as well as all variants with minor allele frequency (MAF) of less than 1% in ExAC/gnomAD were considered. Using WES as a diagnostic tool, three different molecular diagnoses (table 2) have been discovered for this patient with a complex phenotype (table 3).