Article
Exonic mutations and exon skipping: Lessons learned from DFNA5.
Human mutation - 1 Mar 2018
Booth Kevin T, Azaiez Hela, Kahrizi Kimia, Wang Donghong, Zhang Yuzhou, Frees Kathy, Nishimura Carla, Najmabadi Hossein, Smith Richard J
Abstract excerpt
Dysregulation of splicing is a common factor underlying many inherited diseases including deafness. For one deafness-associated gene, DFNA5, perturbation of exon 8 splicing results in a constitutively active truncated protein. To date, only intronic mutations have been reported to cause exon 8 skipping in patients with DFNA5-related deafness. In five families with postlingual progressive autosomal dominant...
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