| Abstract [eng] |
Laura Pranckėnienė's thesis "An evaluation of de novo mutations intensity in exome of the general population of Lithuania and of individuals with intellectual disabilities" presents the analysis of distribution, possible mechanisms of de novo mutation formation in general Lithuanian population and mechanisms of intellectual disability pathogenesis in the group of individuals with intellectual disability. The analysis of de novo mutations, which is generalized on the Lithuanian population scale and not based on individual case descriptions, is important because the trios (father, mother and at least one child) research strategy that allowed us to directly identify the different de novo mutations unaffected by natural selection and to determine the mutation rate. The dissertation describes functional and contextual analysis of all identified genomic variants that made possible to identify possible mechanisms of mutation formation and mechanisms of intellectual disability pathogenesis in the group of individuals with intellectual disability. During the study in the group of individuals with intellectual disability five pathogenic de novo mutations in the ARID1B, PACS1, TCF4, CHD7 and MECP2 genes were identified, three of which (in the ARID1B, CHD7and PACS1 genes) have not yet been described in the literature previously, causing to Coffin-Siris, CHARGE and autosomal dominantly inherited intellectual disability, respectively. |
