Journal article

miRNA Mutations Are Not a Common Cause of Deafness

Michael S Hildebrand, P Dane Witmer, Shunbin Xu, Stephen S Newton, Kimia Kahrizi, Hossein Najmabadi, David Valle, Richard JH Smithl

American Journal of Medical Genetics | WILEY | Published : 2010


Mutations in miRNA genes have been implicated in hearing loss in human families and mice. It is also possible that mutations in miRNA binding sites of inner ear targets alter gene expression levels and lead to hearing loss. To investigate these possibilities we screened predicted target genes of the miR-183 miRNA cluster known to be expressed in the inner ear sensory epithelium. In one Iranian family segregating autosomal recessive non-syndromic hearing loss (ARNSHL), we identified a homozygous variant in a predicted miR-96/182 binding site in the 3'UTR of the RDX (DFNB24) gene. However, in vitro functional studies showed that this site is not a functional target for miR-96/182. We extended ..

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University of Melbourne Researchers