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

Michael Bowl , Michelle Simon , Neil Ingham , Simon Greenaway , Luis Santos , Heather Cater , Sarah Taylor , Jeremy Mason , Natalja Kurbatova , Selina Pearson , Lynette Bower , Dave Clary , Hamid Meziane (1, 2) , Patrick Reilly (1, 2) , Osamu Minowa , Lois Kelsey , Glauco Tocchini-Valentini , Xiang Gao , Allan Bradley , William Skarnes , Mark Moore , Arthur Beaudet , Monica Justice , John Seavitt , Mary Dickinson , Wolfgang Wurst , Martin de Angelis , Yann Herault (1, 2) , Shigeharu Wakana , Lauryl Nutter , Ann Flenniken , Colin Mckerlie , Stephen Murray , Karen Svenson , Robert Braun , David West , Kent Lloyd , David Adams , Jacqui White , Natasha Karp , Paul Flicek , Damian Smedley , Terrence Meehan , Helen Parkinson , Lydia Teboul , Sara Wells , Karen Steel , Ann-Marie Mallon , Steve Brown

1 IGBMC - Institut de Génétique et de Biologie Moléculaire et Cellulaire
2 IGBMC - Institut de génétique et biologie moléculaire et cellulaire

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.

Domaines: Génétique

Michael Bowl, Michelle Simon, Neil Ingham, Simon Greenaway, Luis Santos, et al.. A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction. Nature Communications, 2017, 8 (1), ⟨10.1038/s41467-017-00595-4⟩. ⟨hal-03676410⟩