Non-syndromal autosomal dominant hearing impairment: ongoing phenotypical characterization of genotypes

This review is concerned with the present state of phenotypical characteriz ation of known genotypes of non-syndromal autosomal dominant hearing impair ment. A brief outline of history and context of phenotyping and genotyping of hearing impairment is given with particular reference to the most recent developments in this field, followed by descriptions of DFNA1, DFNA2, DFNA 5, DFNA6/14, DFNA8/12, DFNA9, DFNA13, DFNA17 and DFNA21. Phenotyping those known genotypes may support the ongoing search for mutations in the corresp onding gene and enhance genetic counselling. It is recommended that suffici ent attention is given to a detailed description of the phenotype in each ( newly) described hereditary hearing impairment disorder.