Abstract
We performed a comprehensive molecular genetic examination of patients with Sotos syndrome. To establish molecular diagnosis of the disease, we applied a set of new medical technologies, including targeted high-throughput parallel DNA sequencing (NGS) and multiplex ligation probe amplification (MLPA). Search for point mutations and small indels in the NSD1 and NFIX genes was carried out with next generation sequencing on the Ion Torrent PGM. To detect extended deletions in these genes MLPA method was used. In a group of patients with clinical features of Sotos syndrome, mutations in either one of the genes under study were detected in 44% of cases. All mutations were detected by NGS and presented either SNVs or deletions 1 to 31 bp long within the coding regions of the NSD1 and NFIX genes. No indels encompassing whole genes or their exons have been detected by MLPA.
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