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Intellectual disability, the long way from genes to biological mechanisms

Year: 2020

Type: article

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.

Source: Journal of Translational Genetics and Genomics

DOI: 10.20517/jtgg.2020.10

Authors: Marcelo Marti, Maria Ines Perez Millan, Juan I. Young, Katherina Walz

Institutions: Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad de Buenos Aires, University of Miami

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W3017696141

FWCI: 0.578

Cites: 68

Cited by: 6

Related to: 10