Perrino, PA;
Talbot, L;
Kirkland, R;
Hill, A;
Rendall, AR;
Mountford, HS;
Taylor, J;
WGS500 Consortium, ;
Buscarello, AN;
Lahiri, N;
et al.
Perrino, PA; Talbot, L; Kirkland, R; Hill, A; Rendall, AR; Mountford, HS; Taylor, J; WGS500 Consortium; Buscarello, AN; Lahiri, N; Saggar, A; Fitch, RH; Newbury, DF
(2020)
Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.
Commun Biol, 3 (1).
p. 180.
ISSN 2399-3642
https://doi.org/10.1038/s42003-020-0885-5
SGUL Authors: Lahiri, Nayana
Abstract
Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of, these systems may have secondary effects on emergent language. In this paper, we consider the relationship between genetic variants, hearing, auditory processing and language development. We employ whole genome sequencing in a discovery family to target association and gene x environment interaction analyses in two large population cohorts; the Avon Longitudinal Study of Parents and Children (ALSPAC) and UK10K. These investigations indicate that USH2A variants are associated with altered low-frequency sound perception which, in turn, increases the risk of developmental language disorder. We further show that Ush2a heterozygote mice have low-level hearing impairments, persistent higher-order acoustic processing deficits and altered vocalizations. These findings provide new insights into the complexity of genetic mechanisms serving language development and disorders and the relationships between developmental auditory and neural systems.
Item Type: |
Article
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Additional Information: |
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
© The Author(s) 2020 |
Keywords: |
WGS500 Consortium |
SGUL Research Institute / Research Centre: |
Academic Structure > Institute of Medical & Biomedical Education (IMBE) Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Clinical Education (INMECE ) |
Journal or Publication Title: |
Commun Biol |
ISSN: |
2399-3642 |
Language: |
eng |
Dates: |
Date | Event |
---|
20 April 2020 | Published | 11 March 2020 | Accepted |
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Projects: |
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PubMed ID: |
32313182 |
Web of Science ID: |
WOS:000529220100005 |
![](http://static.pubmed.gov/portal/portal3rc.fcgi/2745237/img/27842) |
Go to PubMed abstract |
URI: |
https://openaccess.sgul.ac.uk/id/eprint/111968 |
Publisher's version: |
https://doi.org/10.1038/s42003-020-0885-5 |
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