Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families

ConclusionsThis shows that still a very large proportion of patients remain undiagnosed and may require further testing. The reason for the negative results of our analysis may be a non-genetic cause of the observed phenotypes or failure to detect the causative variant in the genome. In addition, the study clearly shows that analysis of the mtDNA genome is clinically relevant, as approximately 1% of patients with ID may have pathogenic variant in mitochondrial DNA.

Source: Neurogenetics - July 5, 2023 Category: Genetics & Stem Cells Source Type: research