Intellectual disability, the long way from genes to biological mechanisms

Abstract

Approximately 2% of the world population is affected by intellectual disability (ID). Huge efforts in sequencing and analysis of individual human genomes have identified several genes and genetic/genomic variants associated with ID. Despite all this knowledge, the relationship between genes, pathophysiology and molecular mechanisms of ID remain highly complex. We summarize the genomic advances related to ID, provide examples on how to discern correlative versus causative roles in genetic variation, understand the physiological consequences of identified variants, and discuss future challenges.

Keywords

Intellectual disability / genetics / diagnosis / biological mechanisms

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