Multiple human and mouse otoferlin isoforms

摘要: Using a candidate gene approach, we identified novel human gene, Otoferlin, as underlying an autosomal recessive nonsyndromic prelingual deafness, DFNB9. Otoferlin is the second member of mammalian family related to Caenorhabditis elegans fer-1. Further, describe search for cDNA encoded by mouse orthologous Otof. A comprehensive analyses and otoferlin organization also reported well characterization several alternatively spliced forms.