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Guerra et al. J Transl Genet Genom 2019;3:9 Journal of Translational
DOI: 10.20517/jtgg.2018.03 Genetics and Genomics

Review Open Access

Genomics of speech and language disorders

Joaquin Guerra , Ramon Cacabelos 2
1
1 Neuro-Otolaryngology Unit, Euroespes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Bergondo
15165, Corunna, Spain.
2 Department of Genomic Medicine, Euroespes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, Bergondo
15165, Corunna, Spain.
Correspondence to: Dr. Joaquin Guerra, Neuro-Otolaryngology Unit, Euroespes Biomedical Research Center, Institute of Medical
Science and Genomic Medicine, Bergondo 15165, Corunna, Spain. E-mail: neuroorl@euroespes.com

How to cite this article: Guerra J, Cacabelos R. Genomics of speech and language disorders. J Transl Genet Genom 2019;3:9.
https://doi.org/10.20517/jtgg.2018.03
Received: 15 Dec 2018 First Decision: 8 Apr 2019 Revised: 22 Apr 2019 Accepted: 7 May 2019 Published: 21 Jun 2019

Science Editor: Sheng-Ying Qin Copy Editor: Cai-Hong Wang Production Editor: Huan-Liang Wu

Abstract
Multiple factors involve speech and language. Investigating animal models, mainly through songbirds, has allowed a better
understanding of the verbal communication process. Speech disorders, such as childhood apraxia of speech, dysarthria
or stuttering, along with language disorders, like aphasia, dyslexia or developmental language disorder are the main
examples. More complex syndromes such as Autism-spectrum disorders, Down’s syndrome or Fragile X syndrome have
more variable features. Genetic factors, such as hereditary or de novo mutations may influence the development of all of
these conditions. Besides, most of speech and language disorders are implicated in neurodevelopment with molecular
mechanisms and pathways that interact with each other, and there may be co-morbidity with other communication
disorders or phenotypes unrelated to communication. Genes with heterogeneous functions in speech and language such
as FOXP1, FOXP2, KIAA0319, ROBO1, APOE or CNTNAP2 are some examples. Epigenetic factors, especially microRNAs,
influence the expressiveness. The genomics of these disorders allows us to understand language acquisition, carry out early
detection strategies, genetic counseling and optimize future treatments, not only in communication disorders but also the
neurological alterations that incorporate these mutations.

Keywords: Genomics, epigenetic, speech, language, dysarthria, stuttering, aphasia, FOXP2

INTRODUCTION
The language process requires three structures of the central nervous system: cortex, basal ganglia, and
[1]
cerebellum . The primary language pathway begins at Wernicke’s area, in the posterior temporal lobe. This
pathway collects information from the visual and auditory cortex and it is responsible for understanding

© The Author(s) 2019. Open Access This article is licensed under a Creative Commons Attribution 4.0
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