Deafness

A simple test for hearing, by observing the freeze-reflex in response to a human inaudible click, was used by members of Dr Henrik Dahl.s laboratory at the Murdoch Children.s Research Institute initially to screen ~40 pedigrees of G3 mice. Three true-breeding deaf strains were identified, and are now being analysed and the mutations mapped. Based on this data, an NHMRC project grant application was submitted and funded, supporting ongoing analysis of these variants as well as continued systematic screening of other libraries. The variant genes identified by this program will reveal candidates for human congenital deafness syndromes. This in turn may lead to preventive strategies, based on indications that heterozygous carriers for deafness gene variants are at increased risk of occupational hearing loss.

Wilcox SA, Saunders K, Osborn AH, Arnold A, Wunderlich J, Kelly T, Collins V, Wilcox LJ, McKinlay Gardner RJ, Kamarinos M, Cone-Wesson B, Williamson R, Dahl HH. 2000.
High frequency hearing loss correlated with mutations in the GJB2 gene.
Hum Genet. 2000 106:399-405.