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A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction

Bowl, MR; Simon, MM; Ingham, NJ; Greenaway, S; Santos, L; Cater, H; Taylor, S; ... Brown, SDM; + view all (2017) A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature Communications , 8 , Article 886. 10.1038/s41467-017-00595-4. Green open access

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Abstract

The developmental and physiological complexity of the auditory system is likely reflected in the underlying set of genes involved in auditory function. In humans, over 150 non-syndromic loci have been identified, and there are more than 400 human genetic syndromes with a hearing loss component. Over 100 non-syndromic hearing loss genes have been identified in mouse and human, but we remain ignorant of the full extent of the genetic landscape involved in auditory dysfunction. As part of the International Mouse Phenotyping Consortium, we undertook a hearing loss screen in a cohort of 3006 mouse knockout strains. In total, we identify 67 candidate hearing loss genes. We detect known hearing loss genes, but the vast majority, 52, of the candidate genes were novel. Our analysis reveals a large and unexplored genetic landscape involved with auditory function.

Type: Article
Title: A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction
Open access status: An open access version is available from UCL Discovery
DOI: 10.1038/s41467-017-00595-4
Publisher version: https://doi.org/10.1038/s41467-017-00595-4
Language: English
Additional information: 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/.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > The Ear Institute
URI: https://discovery.ucl.ac.uk/id/eprint/10112368
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