Clinical exome sequencing in Serbian patients with movement disorders: Single centre experience

The aim of the study was to analyze genetic basis a various range neurodegenerative disorders manifesting by movement (MD) using next generation sequencing (NGS) clinical exome panel. included total number 42 cases, 36 unrelated and 3 sibling pairs patients diagnosed with disorders, all negative after targeted testing available at Neurology clinic, UCCS, Belgrade, Serbia. In selection respondents, preference given family cases early presentation, positive history, or complex MD phenotype. Sequencing Clinical (CE) panel for 4813 genes known associated phenotypes performed on an Illumina MiSeq NGS platform according manufacturer?s instructions. Sequence variants were analyzed Illumina?s Variant Studio v3 software as well previously developed pipeline. Variants analysis interpretation based phenotype gene target approach, literature databases search, allele frequency, pathogenicity prediction in silico software. Causative confirmed Sanger sequencing. Whenever possible, additional members studied segregation analysis. We identified likely cause 5 cases. CE revealed 7 different missense one splice site pathogenic/likely pathogenic related rare disorders. Detected TUBB4A, PANK2, SETX, MFSD8, ARSA have been compatible patients. Furthermore, three DCTN1, PDGFRB, POLG detected possible disease. rest diagnosis remains unclear. These results emphasize significance elucidating diseases gave us insight into complexity background this group