Congenital hearing loss refers to hearing loss that is present before a child learns to speak. Variations in the OTOF gene, which encodes the calcium-binding protein otoferlin, are responsible for 1-8% cases of congenital, nonsyndromic hearing loss and are the leading cause of auditory neuropathy spectrum disorders. Nonsyndromic hearing loss is a partial or total loss of hearing that is not associated with other signs and symptoms. This aim of this study is to use CRISPR-Cas13 technology to perform RNA base-editing of a commonly found diseasing-causing mutation (p.Q829X) in OTOF.
Source:
Ford CL, Riggs WJ, Quigley T, Keifer OP Jr, Whitton JP, Valayannopoulos V. The natural history, clinical outcomes, and genotype-phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review. Hum Genet. 2023 Oct;142(10):1429-1449.
