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

  • Allergy and Clinical Immunology
October 12, 2017 By:
  • Bowl MR
  • Simon MM
  • Ingham NJ
  • Greenaway S
  • Santos L
  • Cater H
  • Taylor S
  • Mason J
  • Kurbatova N
  • Pearson S
  • Bower LR
  • Clary DA
  • Meziane H
  • Reilly P
  • Minowa O
  • Kelsey L
  • International Mouse Phenotyping Consortium (Ollert M as collaborator)
  • Tocchini-Valentini GP
  • Gao X
  • Bradley A
  • Skarnes WC
  • Moore M
  • Beaudet AL
  • Justice MJ
  • Seavitt J
  • Dickinson ME
  • Wurst W
  • de Angelis MH
  • Herault Y
  • Wakana S
  • Nutter LMJ
  • Flenniken AM
  • McKerlie C
  • Murray SA
  • Svenson KL
  • Braun RE
  • West DB
  • Lloyd KCK
  • Adams DJ
  • White J
  • Karp N
  • Flicek P
  • Smedley D
  • Meehan TF
  • Parkinson HE
  • Teboul LM
  • Wells S
  • Steel KP
  • Mallon AM
  • Brown SDM.

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.

2017 Oct. Nat Commun.8(1):886.
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