Journal Article


Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

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. 

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Authors

Perrino, Peter A.
Nedevska, Lidiya
Reader, Rose
Hill, Amanda
Rendall, Amanda R.
Mountford, Hayley S.
Taylor, Jenny
Buscarello, Alexzandrea N.
Lahiri, Nayana
Saggar, Anand
Fitch, R. Holly
Newbury, Dianne F.

Oxford Brookes departments

Department of Biological and Medical Sciences

Dates

Year of publication: 2020
Date of RADAR deposit: 2020-03-12


Creative Commons License This work is licensed under a Creative Commons Attribution 4.0 International License


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