Hereditary Non-Syndromic Sensorineural Hearing Loss

摘要: Tremendous progress has been made in our understanding of the molecular basis hearing and loss. Through recent advances, we have begun to understand fascinating biology auditory system unveiled new mechanisms impairment. Changes diagnostic impact genetic testing occurred, as well exciting developments therapeutic options. Molecular diagnosis, which is already a reality for several hearing-associated genes, will doubtlessly continue increase near future, both terms number mutations tested spectrum genes. Genetic analysis loss mostly used diagnosis treatment, relatively rarely reproductive decisions, contrast other inherited disorders. Inherited loss, however, characterized by impressive heterogeneity. An abundance genes carry large mutations, but specific single gene may lead syndromic or non-syndromic Some predominate individual ethnic groups. For clinical laboratory diagnosticians, it challenging keep abreast unfolding discoveries. This review aims provide framework pertinent diagnosticians practical approach mutation impaired.