Медицинская технология комплексной ДНК-диагностики туберозного склероза

We performed a comprehensive molecular genetic examination of 76 patients with tuberous sclerosis. For establish molecular diagnosis of the disease, we applied a new medical technology that includes targeted high-throughput parallel DNA sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and Sanger sequencing. Search for point mutations and small indels in the TSC1 and TSC2 genes was carried out with next generation sequencing on the Ion S5 instrument. In order to filter out sequencing artifacts, to establish pathogenicity of the detected single nucleotide substitutions, and to identify familial cases, Sanger sequencing was performed. To search for extended deletions, the MLPA method was used. In 46% cases mutations have been detected, 70% in the TSC2 gene, and 30% in the TSC1 gene. Overwhelming majority of mutations were detected by NGS (91.9%), and 8.1% were detected by MLPA.