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Marti et al. J Transl Genet Genom 2020;4:104-13 Journal of Translational
DOI: 10.20517/jtgg.2020.10 Genetics and Genomics

Opinion Open Access

Intellectual disability, the long way from genes to
biological mechanisms

Marcelo Marti , Maria Ines Perez Millan , Juan I. Young , Katherina Walz 3,4
1
2
3,4
1 Departamento de Química Biológica e IQUIBICEN-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos
Aires, CABA 1428, Argentina.
2 iB3, Department of Physiology and Molecular and Cellular Biology, Faculty of Natural Sciences, University of Buenos Aires,
CABA 1428, Argentina.
3 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
4 Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL
33136, USA.

Correspondence to: Dr. Katherina Walz, University of Miami, Miller School of Medicine, 1501 NW 10th Avenue, BRB-418 (M-
860), Miami, FL 33136, USA. E-mail: kwalz@med.miami.edu

How to cite this article: Marti M, Millan MIP, Young JI, Walz K. Intellectual disability, the long way from genes to biological
mechanisms. J Transl Genet Genom 2020;4:104-13. http://dx.doi.org/10.20517/jtgg.2020.10

Received: 4 Feb 2020 First Decision: 19 Mar 2020 Revised: 25 Mar 2020 Accepted: 9 Apr 2020 Available online: 23 Apr 2020
Science Editor: Tjitske Kleefstra Copy Editor: Jing-Wen Zhang Production Editor: Jing Yu

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

INTRODUCTION
Processes such as memory, attention, reasoning and executive function are collectively embedded in the
[1]
concept of cognition. While cognitive abilities in humans are variable and inheritable , identification of
the genetic determinants of human cognition has been limited. Candidate genes involved in the molecular
underpinnings of cognition can be identified through studies on cognitive disorders. The impairment of

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
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