| abstract |
The present invention relates to a composition for preventing or treating nonsyndromic deafness and a composition for diagnosing same. The present invention effectively controls the accumulation, in the cytoplasm, of mutated OSBPL2 proteins, which are a direct cause of nonsyndromic deafness, in particular, autosomal dominant nonsyndromic deafness 67 (DFNA67), and thus can be used as a fundamental treatment method, as opposed to a symptomatic treatment. In addition, the present invention, being based on the discovery of a novel frame shift mutation on the OSBPL2 gene associated with DFNA67, can be useful as a highly reliable biomarker for predicting the genetic risk of the onset of DFNA67 before hearing impairment is exhibited. |