Triple Diagnosis established by Whole Exome Sequencing
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).
These findings were presented at the ASHG 2017 annual conference.