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


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.The full extent of the genetic basis for hearing impairment is unknown. Here, as part of the International Mouse Phenotyping Consortium, the authors perform a hearing loss screen in 3006 mouse knockout strains and identify 52 new candidate genes for genetic hearing loss.

SUBMITTER: Bowl MR 

PROVIDER: S-EPMC5638796 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature

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

Bowl Michael R MR   Simon Michelle M MM   Ingham Neil J NJ   Greenaway Simon S   Santos Luis L   Cater Heather H   Taylor Sarah S   Mason Jeremy J   Kurbatova Natalja N   Pearson Selina S   Bower Lynette R LR   Clary Dave A DA   Meziane Hamid H   Reilly Patrick P   Minowa Osamu O   Kelsey Lois L   Tocchini-Valentini Glauco P GP   Gao Xiang X   Bradley Allan A   Skarnes William C WC   Moore Mark M   Beaudet Arthur L AL   Justice Monica J MJ   Seavitt John J   Dickinson Mary E ME   Wurst Wolfgang W   de Angelis Martin Hrabe MH   Herault Yann Y   Wakana Shigeharu S   Nutter Lauryl M J LMJ   Flenniken Ann M AM   McKerlie Colin C   Murray Stephen A SA   Svenson Karen L KL   Braun Robert E RE   West David B DB   Lloyd K C Kent KCK   Adams David J DJ   White Jacqui J   Karp Natasha N   Flicek Paul P   Smedley Damian D   Meehan Terrence F TF   Parkinson Helen E HE   Teboul Lydia M LM   Wells Sara S   Steel Karen P KP   Mallon Ann-Marie AM   Brown Steve D M SDM  

Nature communications 20171012 1


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 Inter  ...[more]

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