[Massive parallel sequencing for molecular-genetic diagnosis of mental retardation]

Gene mutations occur with high frequency in children with mental retardation. Standard diagnostic methods, such as TMS, Sanger's sequencing of individual genes, MLPA analysis of deletions, and investigation of methylation status in Martin-Bell syndrome are not informative in the majority of cases that hampered further diagnostic efforts. Massive parallel sequencing (MPS) allowed physicians to continue diagnostic search in previously undiagnosed cases and to find molecular causes of disease. MPS permits to discover a large number of new genes and understand the pathogenesis of mental retardation and brain development more deeply. It became possible to perform prenatal and pre-implantation diagnostics. However, big data generate big problems with their interpretation the genetic counselor faces with. This review reflects the advantages and disadvantages of MPS. Different variants of MPS, including gene panels, whole exome and whole genome sequencing as well as sequencing of trios, are described. In addition, the authors discuss the difficulties of interpretation of the results and recommendations for obtaining the most accurate results.