Exome sequencing of suspected tuberculoma patient

Abstract

We have carried out a case study of a suspected tuberculoma patient. Besides clinical data analysis, we carried out exome sequencing of this patient to have a better insight into diagnosis. For exome sequencing, the genomic DNA was extracted and purified from the blood of the patient followed by whole exome sequencing using DNBseq’s next-generation sequencing technology. The exome sequence data was analyzed to find out the genes containing rare and pathogenic variants. We observed the “KCNG4”, “PABPC3”, and “TAT “genes harbor pathogenic variants. Bioinformatic analysis of ENSEMBL, GNOME, and COSMIC databases revealed the involvement of these SNVs in small ring-enhancing lesions in the middle cerebellar peduncle region of the central nervous system. These findings provided new insight related to the clinical condition of this patient.