Article
A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.
Nature communications - 12 Oct 2017
Bowl Michael R, Simon Michelle M, Ingham Neil J, Greenaway Simon, Santos Luis, Cater Heather, Taylor Sarah, Mason Jeremy, Kurbatova Natalja, Pearson Selina, Bower Lynette R, Clary Dave A, Meziane Hamid, Reilly Patrick, Minowa Osamu, Kelsey Lois, Tocchini-Valentini Glauco P, Gao Xiang, Bradley Allan, Skarnes William C, Moore Mark, Beaudet Arthur L, Justice Monica J, Seavitt John, Dickinson Mary E, Wurst Wolfgang, de Angelis Martin Hrabe, Herault Yann, Wakana Shigeharu, Nutter Lauryl M J, Flenniken Ann M, McKerlie Colin, Murray Stephen A, Svenson Karen L, Braun Robert E, West David B, Lloyd K C Kent, Adams David J, White Jacqui, Karp Natasha, Flicek Paul, Smedley Damian, Meehan Terrence F, Parkinson Helen E, Teboul Lydia M, Wells Sara, Steel Karen P, Mallon Ann-Marie, Brown Steve D M
Abstract excerpt
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...
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