The genetics of intellectual disability: advancing technology and gene editing.

ABSTRACT: Intellectual disability (ID) is a neurodevelopmental condition affecting 1-3% of the world's population. Genetic factors play a key role causing the congenital limitations in intellectual functioning and adaptive behavior. The heterogeneity of ID makes it more challenging for genetic and clinical diagnosis, but the advent of large-scale genome sequencing projects in a trio approach has proven very effective. However, many variants are still difficult to interpret. A combined approach of next-generation sequencing and functional, electrophysiological, and bioinformatics analysis has identified new ways to understand the causes of ID and help to interpret novel ID-causing genes. This approach offers new targets for ID therapy and increases the efficiency of ID diagnosis. The most recent func

SUBMITTER: Ilyas M 

PROVIDER: S-EPMC6966773 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature